Lista över MeSH-koder (C16)
Följande är en ofullständig lista över "C"-koderna för medicinska ämnesrubriker (MeSH), enligt definition av United States National Library of Medicine (NLM).
Denna lista fortsätter informationen på Lista över MeSH-koder (C15) . Koder som följer dessa finns i Lista över MeSH-koder (C17) . För andra MeSH-koder, se Lista över MeSH-koder .
Källan för detta innehåll är uppsättningen 2006 MeSH Trees från NLM.
MeSH C16 – medfödda, ärftliga och neonatala sjukdomar och abnormiteter
MeSH C16.131 – avvikelser
MeSH C16.131.042 – abnormiteter, läkemedelsinducerade
MeSH C16.131.077 – avvikelser, flera
- MeSH C16.131.077.065 – Alagilles syndrom
- MeSH C16.131.077.095 – Angelmans syndrom
- MeSH C16.131.077.112 – Bardet–Biedls syndrom
- MeSH C16.131.077.130 – basalcellsnevussyndrom
- MeSH C16.131.077.133 – Beckwith–Wiedemanns syndrom
- MeSH C16.131.077.137 – Blooms syndrom
- MeSH C16.131.077.208 – branchio-oto-renalt syndrom
- MeSH C16.131.077.250 – Cockayne syndrom
- MeSH C16.131.077.262 – cri du chat-syndrom
- MeSH C16.131.077.272 – De Langes syndrom
- MeSH C16.131.077.327 – Downs syndrom
- MeSH C16.131.077.350 – ektodermal dysplasi
- MeSH C16.131.077.350.398 – Ellis–van Crevelds syndrom
- MeSH C16.131.077.350.424 – fokal dermal hypoplasi
- MeSH C16.131.077.350.712 – neurokutana syndrom
- MeSH C16.131.077.393 – Gardners syndrom
- MeSH C16.131.077.410 – holoprosencefali
- MeSH C16.131.077.445 – incontinentia pigmenti
- MeSH C16.131.077.509 – Laurence–Moon syndrom
- MeSH C16.131.077.525 – Leopards syndrom
- MeSH C16.131.077.550 – Marfans syndrom
- MeSH C16.131.077.578 – Möbius syndrom
- MeSH C16.131.077.606 – nagel-patella syndrom
- MeSH C16.131.077.661 – oculocerebrorenalt syndrom
- MeSH C16.131.077.677 – orofaciodigitala syndrom
- MeSH C16.131.077.703 – POEMS syndrom
- MeSH C16.131.077.730 – Prader–Willis syndrom
- MeSH C16.131.077.740 – proteus syndrom
- MeSH C16.131.077.745 – prune belly syndrome
- MeSH C16.131.077.790 – röda hundsyndrom, medfödd
- MeSH C16.131.077.804 – Rubinstein–Taybis syndrom
- MeSH C16.131.077.850 – Kort revben – polydaktylisk syndrom
- MeSH C16.131.077.860 – Smith–Lemli–Opitz syndrom
- MeSH C16.131.077.938 – Waardenburgs syndrom
- MeSH C16.131.077.951 – Wolframs syndrom
- MeSH C16.131.077.970 – Zellwegers syndrom
MeSH C16.131.080 – avvikelser, strålningsinducerad
MeSH C16.131.240 – kardiovaskulära avvikelser
- MeSH C16.131.240.110 – arterio-arteriell fistel
- MeSH C16.131.240.150 – arteriovenösa missbildningar
- MeSH C16.131.240.150.125 – arteriovenös fistel
- MeSH C16.131.240.150.295 – intrakraniella arteriovenösa missbildningar
- MeSH C16.131.240.275 – vaskulära missbildningar i centrala nervsystemet
- MeSH C16.131.240.400 – hjärtfel, medfödda
- MeSH C16.131.240.400.090 – aorta-koarktation
- MeSH C16.131.240.400.145 – arytmogen högerkammardysplasi
- MeSH C16.131.240.400.200 – cor triatriatum
- MeSH C16.131.240.400.210 – anomalier i kranskärlen
- MeSH C16.131.240.400.220 – kors och tvärs hjärta
- MeSH C16.131.240.400.280 – dextrokardi
- MeSH C16.131.240.400.280.500 – Kartageners syndrom
- MeSH C16.131.240.400.340 – ductus arteriosus, patent
- MeSH C16.131.240.400.395 – Ebsteins anomali
- MeSH C16.131.240.400.450 – Eisenmenger-komplex
- MeSH C16.131.240.400.560 – hjärtseptumdefekter
- MeSH C16.131.240.400.560.098 – aortopulmonär septumdefekt
- MeSH C16.131.240.400.560.350 – endokardiella kuddedefekter
- MeSH C16.131.240.400.560.375 – hjärtseptumdefekter, förmak
- MeSH C16.131.240.400.560.375.518 – Lutembachers syndrom
- MeSH C16.131.240.400.560.375.702 – Trilogy of Fallot
- MeSH C16.131.240.400.560.540 – hjärtseptumdefekter, ventrikulär
- MeSH C16.131.240.400.625 – hypoplastiskt vänsterhjärtsyndrom
- MeSH C16.131.240.400.685 – Leopards syndrom
- MeSH C16.131.240.400.701 – levokardi
- MeSH C16.131.240.400.720 – Marfans syndrom
- MeSH C16.131.240.400.849 – Tetralogy of Fallot
- MeSH C16.131.240.400.915 – införlivande av stora fartyg
- MeSH C16.131.240.400.915.300 – dubbelt utlopp höger kammare
- MeSH C16.131.240.400.920 – trikuspidalatresi
- MeSH C16.131.240.400.929 – truncus arteriosus, ihållande
- MeSH C16.131.240.670 – pulmonell atresi
- MeSH C16.131.240.700 – scimitar syndrom
MeSH C16.131.260 – kromosomrubbningar
- MeSH C16.131.260.040 – Angelmans syndrom
- MeSH C16.131.260.080 – Beckwith–Wiedemanns syndrom
- MeSH C16.131.260.090 – branchio-oto-renalt syndrom
- MeSH C16.131.260.190 – cri du chat syndrom
- MeSH C16.131.260.210 – De Langes syndrom
- MeSH C16.131.260.260 – Downs syndrom
- MeSH C16.131.260.380 – holoprosencefali
- MeSH C16.131.260.700 – Prader–Willis syndrom
- MeSH C16.131.260.790 – Rubinstein–Taybis syndrom
- MeSH C16.131.260.800 – könskromosomstörningar
- MeSH C16.131.260.800.240 – ektodermal dysplasi
- MeSH C16.131.260.800.240.350 – fokal dermal hypoplasi
- MeSH C16.131.260.800.300 – fragilt X-syndrom
- MeSH C16.131.260.800.340 – gonadal dysgenes, 46,xy
- MeSH C16.131.260.800.345 – gonadal dysgenes, blandad
- MeSH C16.131.260.800.490 – Klinefelters syndrom
- MeSH C16.131.260.800.670 – orofaciodigitala syndrom
- MeSH C16.131.260.800.870 – Turners syndrom
- MeSH C16.131.260.940 – WAGR-syndrom
- MeSH C16.131.260.970 – Williams syndrom
MeSH C16.131.300 – DiGeorges syndrom
MeSH C16.131.314 – abnormiteter i matsmältningssystemet
- MeSH C16.131.314.094 – anus, operforerad
- MeSH C16.131.314.125 – biliär atresi
- MeSH C16.131.314.184 – koledokal cysta
- MeSH C16.131.314.184.500 – Caroli sjukdom
- MeSH C16.131.314.244 – diafragmatisk eventration
- MeSH C16.131.314.330 – esofagusatresi
- MeSH C16.131.314.439 – Hirschsprungs sjukdom
- MeSH C16.131.314.466 – intestinal atresi
- MeSH C16.131.314.556 – Meckels divertikel
MeSH C16.131.384 – ögonavvikelser
- MeSH C16.131.384.079 – aniridi
- MeSH C16.131.384.079.950 – WAGR-syndrom
- MeSH C16.131.384.159 – anoftalmos
- MeSH C16.131.384.190 – blefarofimos
- MeSH C16.131.384.282 – coloboma
- MeSH C16.131.384.405 – ectopia lentis
- MeSH C16.131.384.480 – hydroftalmos
- MeSH C16.131.384.666 – mikroftalmos
- MeSH C16.131.384.784 – retinal dysplasi
MeSH C16.131.482 – lymfatiska abnormiteter
- MeSH C16.131.482.500 – lymfangiektas, tarm
MeSH C16.131.581 – monster
MeSH C16.131.621 – muskuloskeletala abnormiteter
- MeSH C16.131.621.077 – arthrogryposis
- MeSH C16.131.621.207 – kraniofaciala abnormiteter
- MeSH C16.131.621.207.207 – kleidokraniell dysplasi
- MeSH C16.131.621.207.231 – kraniofacial dysostos
- MeSH C16.131.621.207.231.427 – Hallermanns syndrom
- MeSH C16.131.621.207.231.480 – hypertelorism
- MeSH C16.131.621.207.231.576 – mandibulofacial dysostos
- MeSH C16.131.621.207.231.576.410 – goldenhars syndrom
- MeSH C16.131.621.207.240 – kraniosynostoser
- MeSH C16.131.621.207.240.100 – acrocephalosyndactylia
- MeSH C16.131.621.207.410 – holoprosencefali
- MeSH C16.131.621.207.525 – Leopards syndrom
- MeSH C16.131.621.207.540 – maxillofaciala abnormiteter
- MeSH C16.131.621.207.540.170 – kerubism
- MeSH C16.131.621.207.540.460 – abnormiteter i käken
- MeSH C16.131.621.207.540.460.185 – gomspalt
- MeSH C16.131.621.207.540.460.457 – mikrognatism
- MeSH C16.131.621.207.540.460.606 – Pierre Robins syndrom
- MeSH C16.131.621.207.540.460.655 – prognatism
- MeSH C16.131.621.207.540.460.813 – retrognatism
- MeSH C16.131.621.207.620 – mikrocefali
- MeSH C16.131.621.207.690 – Noonans syndrom
- MeSH C16.131.621.207.700 – orofaciodigitala syndrom
- MeSH C16.131.621.207.715 – plagiocefali, icke-synostotisk
- MeSH C16.131.621.207.720 – platybasia
- MeSH C16.131.621.207.850 – Rubinstein–Taybis syndrom
- MeSH C16.131.621.386 – trattkista
- MeSH C16.131.621.417 – gastroschisis
- MeSH C16.131.621.445 – Hajdu–Cheneys syndrom
- MeSH C16.131.621.449 – höftluxation, medfödd
- MeSH C16.131.621.551 – Klippel–Feil syndrom
- MeSH C16.131.621.585 – extremitetsdeformiteter, medfödda
- MeSH C16.131.621.585.350 – ektromelia
- MeSH C16.131.621.585.380 – fotdeformiteter, medfödda
- MeSH C16.131.621.585.425 – handdeformiteter, medfödda
- MeSH C16.131.621.585.512 – missbildningar i nedre extremiteterna, medfödda
- MeSH C16.131.621.585.600 – polydaktyli
- MeSH C16.131.621.585.600.750 – kort revben – polydaktylisk syndrom
- MeSH C16.131.621.585.620 – proteus syndrom
- MeSH C16.131.621.585.800 – syndaktyli
- MeSH C16.131.621.585.800.100 – acrocephalosyndactylia
- MeSH C16.131.621.585.800.756 – Polens syndrom
- MeSH C16.131.621.585.984 – thanatoforisk dysplasi
- MeSH C16.131.621.585.988 – deformiteter i övre extremiteterna, medfödda
- MeSH C16.131.621.906 – synostos
- MeSH C16.131.621.906.364 – kraniosynostoser
- MeSH C16.131.621.906.364.100 – acrocephalosyndactylia
- MeSH C16.131.621.906.819 – syndaktyli
- MeSH C16.131.621.906.819.100 – acrocephalosyndactylia
- MeSH C16.131.621.906.819.756 – Polens syndrom
MeSH C16.131.666 – missbildningar i nervsystemet
- MeSH C16.131.666.142 – cysta i centrala nervsystemet
- MeSH C16.131.666.142.100 – arachnoid cysta
- MeSH C16.131.666.190 – vaskulära missbildningar i centrala nervsystemet
- MeSH C16.131.666.190.200 – hemangiom, kavernös, centrala nervsystemet
- MeSH C16.131.666.190.600 – venöst angiom i centrala nervsystemet
- MeSH C16.131.666.190.800 – sinus pericranii
- MeSH C16.131.666.205 – Dandy–Walkers syndrom
- MeSH C16.131.666.300 – ärftliga motoriska och sensoriska neuropatier
- MeSH C16.131.666.300.200 – Charcot–Marie–Tooths sjukdom
- MeSH C16.131.666.300.780 – Refsums sjukdom
- MeSH C16.131.666.300.820 – spastisk paraplegi, ärftlig
- MeSH C16.131.666.310 – ärftliga sensoriska och autonoma neuropatier
- MeSH C16.131.666.310.309 – dysautonomi, familjär
- MeSH C16.131.666.410 – holoprosencefali
- MeSH C16.131.666.450 – hydranencefali
- MeSH C16.131.666.460 – intrakraniella arteriovenösa missbildningar
- MeSH C16.131.666.680 – neuralrörsdefekter
- MeSH C16.131.666.680.196 – anencefali
- MeSH C16.131.666.680.291 – Arnold–Chiari missbildning
- MeSH C16.131.666.680.488 – encephalocele
- MeSH C16.131.666.680.598 – meningocele
- MeSH C16.131.666.680.610 – meningomyelocele
- MeSH C16.131.666.680.800 – spinal dysraphism
- MeSH C16.131.666.680.800.730 – spina bifida cystica
- MeSH C16.131.666.680.800.750 – spina bifida occulta
- MeSH C16.131.666.845 – septo-optisk dysplasi
MeSH C16.131.740 – avvikelser i andningsorganen
- MeSH C16.131.740.195 – bronkogen cysta
- MeSH C16.131.740.214 – bronkopulmonell sekvestrering
- MeSH C16.131.740.271 – choanal atresi
- MeSH C16.131.740.290 – cystisk adenomatoid missbildning i lungan, medfödd
- MeSH C16.131.740.501 – kartagener syndrom
- MeSH C16.131.740.815 – scimitar syndrom
- MeSH C16.131.740.830 – trakeobronkomegali
MeSH C16.131.810 – situs inversus
- MeSH C16.131.810.250 – dextrocardia
- MeSH C16.131.810.250.500 – kartagener syndrom
- MeSH C16.131.810.700 – levokardi
MeSH C16.131.831 – hudavvikelser
- MeSH C16.131.831.066 – akrodermatit
- MeSH C16.131.831.150 – dyseratosis congenita
- MeSH C16.131.831.350 – ektodermal dysplasi
- MeSH C16.131.831.350.398 – Ellis–van Crevelds syndrom
- MeSH C16.131.831.350.424 – fokal dermal hypoplasi
- MeSH C16.131.831.350.712 – neurokutana syndrom
- MeSH C16.131.831.428 – Ehlers–Danlos syndrom
- MeSH C16.131.831.493 – epidermolysis bullosa
- MeSH C16.131.831.493.080 – epidermolysis bullosa acquisita
- MeSH C16.131.831.493.160 – epidermolysis bullosa dystrophica
- MeSH C16.131.831.493.170 – epidermolysis bullosa, junctional
- MeSH C16.131.831.493.180 – epidermolysis bullosa simplex
- MeSH C16.131.831.512 – iktyos
- MeSH C16.131.831.512.400 – iktyosiform erytrodermi, medfödd
- MeSH C16.131.831.512.400.375 – hyperkeratos, epidermolytisk
- MeSH C16.131.831.512.400.410 – iktyos, lamellär
- MeSH C16.131.831.512.410 – ichthyosis vulgaris
- MeSH C16.131.831.512.420 – iktyos, x-länkad
- MeSH C16.131.831.512.723 – Sjögren–Larssons syndrom
- MeSH C16.131.831.580 – incontinentia pigmenti
- MeSH C16.131.831.675 – portvinsbets
- MeSH C16.131.831.766 – pseudoxanthoma elasticum
- MeSH C16.131.831.775 – Rothmund–Thomsons syndrom
- MeSH C16.131.831.812 – sclerema neonatorum
- MeSH C16.131.831.936 – xeroderma pigmentosum
MeSH C16.131.850 – avvikelser i stomatogena systemet
- MeSH C16.131.850.500 – maxillofaciala abnormiteter
- MeSH C16.131.850.500.460 – käkavvikelser
- MeSH C16.131.850.500.460.185 – gomspalt
- MeSH C16.131.850.500.460.457 – mikrognatism
- MeSH C16.131.850.500.460.606 – Pierre Robins syndrom
- MeSH C16.131.850.500.460.655 – prognatism
- MeSH C16.131.850.500.460.813 – retrognatism
- MeSH C16.131.850.525 – abnormiteter i munnen
- MeSH C16.131.850.525.164 – läppspalt
- MeSH C16.131.850.525.185 – gomspalt
- MeSH C16.131.850.525.304 – fibromatos, gingival
- MeSH C16.131.850.525.480 – makrostomi
- MeSH C16.131.850.525.520 – mikrostomi
- MeSH C16.131.850.525.955 – velofaryngeal insufficiens
- MeSH C16.131.850.800 – tandavvikelser
- MeSH C16.131.850.800.065 – amelogenesis imperfecta
- MeSH C16.131.850.800.065.300 – tandemaljhypoplasi
- MeSH C16.131.850.800.100 – anodontia
- MeSH C16.131.850.800.250 – hålor i dente
- MeSH C16.131.850.800.260 – dentindysplasi
- MeSH C16.131.850.800.270 – dentinogenesis imperfecta
- MeSH C16.131.850.800.370 – sammansmälta tänder
- MeSH C16.131.850.800.600 – odontodysplasi
- MeSH C16.131.850.800.850 – tand, supernumerär
MeSH C16.131.894 – sköldkörteldysgenes
- MeSH C16.131.894.500 – lingual sköldkörtel
- MeSH C16.131.894.500.500 – lingual goiter
MeSH C16.131.939 – urogenitala avvikelser
- MeSH C16.131.939.132 – blåsexstrofi
- MeSH C16.131.939.258 – kryptorkism
- MeSH C16.131.939.374 – epispadier
- MeSH C16.131.939.445 – frasier syndrom
- MeSH C16.131.939.516 – hypospadi
- MeSH C16.131.939.629 – multicystisk dysplastisk njure
- MeSH C16.131.939.742 – nefrit, ärftlig
- MeSH C16.131.939.842 – könsdifferentieringsstörningar
- MeSH C16.131.939.842.260 – freemartinism
- MeSH C16.131.939.842.309 – gonadal dysgenes
- MeSH C16.131.939.842.309.193 – gonadal dysgenes, 46,xx
- MeSH C16.131.939.842.309.388 – gonadal dysgenes, 46,xy
- MeSH C16.131.939.842.309.391 – gonadal dysgenes, blandad
- MeSH C16.131.939.842.309.872 – Turners syndrom
- MeSH C16.131.939.842.316 – hermafroditism
- MeSH C16.131.939.842.316.313 – hermafroditism, sant
- MeSH C16.131.939.842.316.627 – pseudohermafroditism
- MeSH C16.131.939.842.316.627.109 – androgen okänslighetssyndrom
- MeSH C16.131.939.842.316.627.220 – Denys–Drash syndrom
- MeSH C16.131.939.842.425 – Kallmanns syndrom
- MeSH C16.131.939.842.454 – Klinefelters syndrom
- MeSH C16.131.939.921 – WAGR-syndrom
MeSH C16.300 – fostersjukdomar
MeSH C16.300.030 – chorioamnionit
MeSH C16.300.060 – erytroblastos, foster
MeSH C16.300.080 – fetalt alkoholsyndrom
MeSH C16.300.100 – fetal hypoxi
MeSH C16.300.390 – fostrets tillväxthämning
MeSH C16.300.570 – fostermakrosomi
MeSH C16.300.580 – mekoniumaspirationssyndrom
MeSH C16.320 – genetiska sjukdomar, medfödda
MeSH C16.320.033 – binjurehyperplasi, medfödd
MeSH C16.320.070 – anemi, hemolytisk, medfödd
- MeSH C16.320.070.095 – anemi, dyserytropoetisk, medfödd
- MeSH C16.320.070.100 – anemi, hemolytisk, medfödd icke-sfärocytisk
- MeSH C16.320.070.150 – anemi, sicklecell
- MeSH C16.320.070.150.440 – hemoglobin SC-sjukdom
- MeSH C16.320.070.150.670 – sicklecellsdrag
- MeSH C16.320.070.365 – elliptocytos, ärftlig
- MeSH C16.320.070.480 – glukosfosfatdehydrogenasbrist
- MeSH C16.320.070.480.370 – favism
- MeSH C16.320.070.490 – hemoglobin c-sjukdom
- MeSH C16.320.070.785 – sfärocytos, ärftlig
- MeSH C16.320.070.875 – talassemi
- MeSH C16.320.070.875.100 – alfa-talassemi
- MeSH C16.320.070.875.150 – beta-talassemi
MeSH C16.320.077 – anemi, hypoplastisk, medfödd
MeSH C16.320.080 – ataxia telangiectasia
MeSH C16.320.099 – blodkoagulationsrubbningar, ärftliga
- MeSH C16.320.099.037 – aktiverat protein C-resistens
- MeSH C16.320.099.056 – afibrinogenemi
- MeSH C16.320.099.075 – antitrombin III-brist
- MeSH C16.320.099.080 – Bernard–Souliers syndrom
- MeSH C16.320.099.300 – faktor V-brist
- MeSH C16.320.099.310 – faktor VII-brist
- MeSH C16.320.099.320 – faktor X-brist
- MeSH C16.320.099.325 – faktor XI-brist
- MeSH C16.320.099.330 – faktor XII-brist
- MeSH C16.320.099.335 – faktor XIII-brist
- MeSH C16.320.099.500 – hemofili A
- MeSH C16.320.099.510 – hemofili B
- MeSH C16.320.099.515 – Hermansky–Pudlaks syndrom
- MeSH C16.320.099.550 – hypoprotrombinemier
- MeSH C16.320.099.690 – protein C-brist
- MeSH C16.320.099.820 – trombasteni
- MeSH C16.320.099.900 – Von Willebrands sjukdom
- MeSH C16.320.099.970 – Wiskott–Aldrichs syndrom
MeSH C16.320.129 – CADASIL
MeSH C16.320.160 – kardiomyopati, hypertrofisk, familjär
MeSH C16.320.170 – kerubism
MeSH C16.320.180 – kromosomrubbningar
- MeSH C16.320.180.040 – angelmans syndrom
- MeSH C16.320.180.080 – Beckwith–Wiedemanns syndrom
- MeSH C16.320.180.090 – branchio-oto-renalt syndrom
- MeSH C16.320.180.190 – cri du chat syndrom MeSH C16.320.180.210 – De Langes syndrom
- MeSH C16.320.180.260 – Downs syndrom
- MeSH C16.320.180.380 – holoprosencefali
- MeSH C16.320.180.700 – Prader–Willis syndrom
- MeSH C16.320.180.790 – Rubinstein–Taybis syndrom
- MeSH C16.320.180.800 – könskromosomstörningar
- MeSH C16.320.180.800.240 – ektodermal dysplasi
- MeSH C16.320.180.800.240.350 – fokal dermal hypoplasi
- MeSH C16.320.180.800.300 – fragilt X-syndrom
- MeSH C16.320.180.800.340 – gonadal dysgenes, 46,xy
- MeSH C16.320.180.800.345 – gonadal dysgenes, blandad
- MeSH C16.320.180.800.490 – Klinefelters syndrom
- MeSH C16.320.180.800.670 – orofaciodigitala syndrom
- MeSH C16.320.180.800.870 – Turners syndrom
- MeSH C16.320.180.940 – WAGR-syndrom
- MeSH C16.320.180.970 – Williams syndrom
MeSH C16.320.190 – cystisk fibros
MeSH C16.320.240 – dvärgväxt
- MeSH C16.320.240.500 – akondroplasi
- MeSH C16.320.240.562 – cockaynes syndrom
- MeSH C16.320.240.625 – medfödd hypotyreos
- MeSH C16.320.240.750 – larons syndrom
- MeSH C16.320.240.875 – mulibrey nanism
MeSH C16.320.290 – ögonsjukdomar, ärftliga
- MeSH C16.320.290.040 – albinism
- MeSH C16.320.290.040.090 – albinism, okulär
- MeSH C16.320.290.040.100 – albinism, oculocutaneous
- MeSH C16.320.290.040.100.400 – Hermansky–Pudlaks syndrom
- MeSH C16.320.290.040.600 – piebaldism
- MeSH C16.320.290.078 – aniridi
- MeSH C16.320.290.078.950 – WAGR-syndrom
- MeSH C16.320.290.142 – koroidemi
- MeSH C16.320.290.162 – hornhinnedystrofier, ärftlig
- MeSH C16.320.290.162.410 – Fuchs endoteldystrofi
- MeSH C16.320.290.235 – Duane retraktionssyndrom
- MeSH C16.320.290.468 – gyratatrofi
- MeSH C16.320.290.564 – optiska atrofier, ärftlig
- MeSH C16.320.290.564.400 – optisk atrofi, ärftlig, leber
- MeSH C16.320.290.564.500 – optisk atrofi, autosomal dominant
- MeSH C16.320.290.564.980 – Wolframs syndrom
- MeSH C16.320.290.660 – retinal dysplasi
- MeSH C16.320.290.684 – retinitis pigmentosa
- MeSH C16.320.290.684.500 – Ushers syndrom
MeSH C16.320.306 – familjär medelhavsfeber
MeSH C16.320.322 – genetiska sjukdomar, x-kopplade
- MeSH C16.320.322.061 – androgen okänslighetssyndrom
- MeSH C16.320.322.092 – koroidemi
- MeSH C16.320.322.108 – dyseratosis congenita
- MeSH C16.320.322.124 – Fabry sjukdom
- MeSH C16.320.322.186 – fokal dermal hypoplasi
- MeSH C16.320.322.201 – glykogenlagringssjukdom typ IIb
- MeSH C16.320.322.217 – glykogenlagringssjukdom typ VIII
- MeSH C16.320.322.233 – granulomatös sjukdom, kronisk
- MeSH C16.320.322.241 – iktyos, x-bunden
- MeSH C16.320.322.360 – hemofili B
- MeSH C16.320.322.500 – utvecklingsstörning, x-länkad
- MeSH C16.320.322.500.124 – adrenoleukodystrofi
- MeSH C16.320.322.500.249 – Coffin–Lowrys syndrom
- MeSH C16.320.322.500.500 – fragilt X-syndrom
- MeSH C16.320.322.500.625 – Lesch–Nyhans syndrom
- MeSH C16.320.322.500.687 – Menkes kinky hair syndrome
- MeSH C16.320.322.500.750 – mukopolysackaridos II
- MeSH C16.320.322.500.875 – pyruvatdehydrogenaskomplexbristsjukdom
- MeSH C16.320.322.500.937 – Retts syndrom
- MeSH C16.320.322.562 – muskeldystrofi, Duchenne
- MeSH C16.320.322.625 – muskeldystrofi, Emery–Dreifuss
- MeSH C16.320.322.750 – oculocerebrorenalt syndrom
- MeSH C16.320.322.906 – Pelizaeus–Merzbachers sjukdom
- MeSH C16.320.322.937 – Wiskott–Aldrichs syndrom
MeSH C16.320.338 – genetiska sjukdomar, y-kopplad
MeSH C16.320.355 – Hajdu–Cheneys syndrom
MeSH C16.320.365 – hemoglobinopatier
- MeSH C16.320.365.155 – anemi, sicklecell
- MeSH C16.320.365.155.440 – hemoglobin sc sjukdom
- MeSH C16.320.365.155.668 – sicklecellsdrag
- MeSH C16.320.365.463 – hemoglobin c-sjukdom
- MeSH C16.320.365.826 – talassemi
- MeSH C16.320.365.826.100 – alfa-talassemi
- MeSH C16.320.365.826.100.350 – hydrops fetalis
- MeSH C16.320.365.826.150 – beta-talassemi
MeSH C16.320.400 – heredodegenerativa störningar, nervsystemet
- MeSH C16.320.400.024 – Alexanders sjukdom
- MeSH C16.320.400.050 – amyloida neuropatier, familjär
- MeSH C16.320.400.150 – Canavan sjukdom
- MeSH C16.320.400.200 – Cockayne syndrom
- MeSH C16.320.400.330 – dystonia musculorum deformans
- MeSH C16.320.400.350 – Gerstmann–Sträussler–Scheinkers sjukdom
- MeSH C16.320.400.375 – Hallervorden–Spatz syndrom
- MeSH C16.320.400.387 – hepatolentikulär degeneration
- MeSH C16.320.400.393 – ärftliga demyeliniserande sjukdomar i centrala nervsystemet
- MeSH C16.320.400.400 – ärftliga motoriska och sensoriska neuropatier
- MeSH C16.320.400.400.200 – Charcot–Marie–Tooths sjukdom
- MeSH C16.320.400.400.780 – Refsums sjukdom
- MeSH C16.320.400.400.820 – spastisk paraplegi, ärftlig
- MeSH C16.320.400.415 – ärftliga sensoriska och autonoma neuropatier
- MeSH C16.320.400.415.309 – dysautonomi, familjär
- MeSH C16.320.400.430 – Huntingtons sjukdom
- MeSH C16.320.400.480 – Laforas sjukdom
- MeSH C16.320.400.500 – Lesch–Nyhans syndrom
- MeSH C16.320.400.520 – Menkes kinky hair syndrome
- MeSH C16.320.400.525 – mental retardation, x-länkad
- MeSH C16.320.400.525.124 – adrenoleukodystrofi
- MeSH C16.320.400.525.249 – Coffin–Lowrys syndrom
- MeSH C16.320.400.525.500 – fragilt X-syndrom
- MeSH C16.320.400.525.625 – Lesch–Nyhans syndrom
- MeSH C16.320.400.525.687 – Menkes kinky hair syndrome
- MeSH C16.320.400.525.750 – mukopolysackaridos II
- MeSH C16.320.400.525.875 – pyruvatdehydrogenaskomplexbristsjukdom
- MeSH C16.320.400.525.937 – Retts syndrom
- MeSH C16.320.400.540 – myotonia congenita
- MeSH C16.320.400.542 – myotonisk dystrofi
- MeSH C16.320.400.560 – neurofibromatos
- MeSH C16.320.400.560.400 – neurofibromatosis 1
- MeSH C16.320.400.560.700 – neurofibromatosis 2
- MeSH C16.320.400.600 – neuronal ceroid-lipofuscinosis
- MeSH C16.320.400.630 – optiska atrofier, ärftlig
- MeSH C16.320.400.630.400 – optisk atrofi, ärftlig, leber
- MeSH C16.320.400.630.500 – optisk atrofi, autosomal dominant
- MeSH C16.320.400.630.980 – Wolframs syndrom
- MeSH C16.320.400.700 – Retts syndrom
- MeSH C16.320.400.765 – spinal muskelatrofier i barndomen
- MeSH C16.320.400.780 – spinocerebellära degenerationer
- MeSH C16.320.400.780.200 – Friedreichs ataxi
- MeSH C16.320.400.780.500 – myoklonisk cerebellär dyssynergi
- MeSH C16.320.400.780.750 – olivopontocerebellära atrofier
- MeSH C16.320.400.780.875 – spinocerebellär ataxi
- MeSH C16.320.400.780.875.500 – Machado–Josephs sjukdom
- MeSH C16.320.400.820 – Tourettes syndrom
- MeSH C16.320.400.880 – tuberös skleros
- MeSH C16.320.400.940 – Unverricht–Lundborgs syndrom
MeSH C16.320.427 – hypertyroxinemi, familjär dysalbuminemi
MeSH C16.320.455 – Jervells och Lange-Nielsens syndrom
MeSH C16.320.467 – kallmanns syndrom
MeSH C16.320.480 – kartagener syndrom
MeSH C16.320.540 – marfans syndrom
MeSH C16.320.565 – metabolism, medfödda fel
- MeSH C16.320.565.066 – aminosyrametabolism, medfödda fel
- MeSH C16.320.565.066.102 – albinism
- MeSH C16.320.565.066.102.090 – albinism, okulär
- MeSH C16.320.565.066.102.100 – albinism, oculocutaneous
- MeSH C16.320.565.066.102.100.400 – Hermansky–Pudlaks syndrom
- MeSH C16.320.565.066.102.600 – piebaldism
- MeSH C16.320.565.066.187 – alkaptonuri
- MeSH C16.320.565.066.210 – aminoaciduri, renal
- MeSH C16.320.565.066.210.250 – cystinuri
- MeSH C16.320.565.066.210.490 – Hartnups sjukdom
- MeSH C16.320.565.066.275 – karbamoylfosfatsyntas I-bristsjukdom
- MeSH C16.320.565.066.340 – citrullinemi
- MeSH C16.320.565.066.470 – homocystinuri
- MeSH C16.320.565.066.475 – hyperargininemi
- MeSH C16.320.565.066.477 – hyperglycinemi, icke-ketotisk
- MeSH C16.320.565.066.480 – hyperhomocysteinemi
- MeSH C16.320.565.066.544 – hyperlysinemier
- MeSH C16.320.565.066.608 – lönnsirapsurinsjukdom
- MeSH C16.320.565.066.620 – multipel karboxylasbrist
- MeSH C16.320.565.066.620.100 – biotinidasbrist
- MeSH C16.320.565.066.620.380 – holokarboxylassyntetasbrist
- MeSH C16.320.565.066.729 – ornitinkarbamoyltransferasbristsjukdom
- MeSH C16.320.565.066.766 – fenylketonuri
- MeSH C16.320.565.066.766.500 – fenylketonuri, modern
- MeSH C16.320.565.066.880 – tyrosinemier
- MeSH C16.320.565.088 – aminosyratransportstörningar, medfödda
- MeSH C16.320.565.088.400 – Hartnups sjukdom
- MeSH C16.320.565.088.600 – oculocerebrorenalt syndrom
- MeSH C16.320.565.100 – amyloidos, familjär
- MeSH C16.320.565.100.050 – amyloida neuropatier, familjär
- MeSH C16.320.565.100.160 – cerebral amyloidangiopati, familjär
- MeSH C16.320.565.150 – hjärnsjukdomar, metabola, medfödda
- MeSH C16.320.565.150.050 – abetalipoproteinemi
- MeSH C16.320.565.150.162 – karbamoylfosfatsyntas I-bristsjukdom
- MeSH C16.320.565.150.168 – cerebral amyloidangiopati, familjär
- MeSH C16.320.565.150.175 – citrullinemi
- MeSH C16.320.565.150.320 – galaktosemi
- MeSH C16.320.565.150.355 – Hartnups sjukdom
- MeSH C16.320.565.150.360 – hepatolentikulär degeneration
- MeSH C16.320.565.150.365 – homocystinuri
- MeSH C16.320.565.150.370 – hyperargininemi
- MeSH C16.320.565.150.375 – hyperglycinemi, icke-ketotisk
- MeSH C16.320.565.150.380 – hyperlysinemier
- MeSH C16.320.565.150.412 – Leigh sjukdom
- MeSH C16.320.565.150.425 – Lesch–Nyhans syndrom
- MeSH C16.320.565.150.435 – lysosomala lagringssjukdomar, nervsystemet
- MeSH C16.320.565.150.435.295 – fucosidos
- MeSH C16.320.565.150.435.340 – glykogenlagringssjukdom typ II
- MeSH C16.320.565.150.435.590 – mukolipidoser
- MeSH C16.320.565.150.435.810 – sialinsyralagringssjukdom
- MeSH C16.320.565.150.435.825 – sfingolipidoser
- MeSH C16.320.565.150.435.825.200 – Fabrys sjukdom MeSH C16.320.565.150.435.825.300 – gangliosidoser
- MeSH C16.320.565.150.435.825.300.300 – gangliosidoser GM2
- MeSH C16.320.565.150.435.825.300.300.800 – Sandhoffs sjukdom
- MeSH C16.320.565.150.435.825.300.300.840 – Tay–Sachs sjukdom
- MeSH C16.320.565.150.435.825.300.300.920 – Tay–Sachs sjukdom, AB-variant
- MeSH C16.320.565.150.435.825.300.400 – gangliosidos GM1
- MeSH C16.320.565.150.435.825.400 – Gauchers sjukdom
- MeSH C16.320.565.150.435.825.590 – leukodystrofi, globoidcell
- MeSH C16.320.565.150.435.825.594 – leukodystrofi, metakromatisk
- MeSH C16.320.565.150.435.825.700 – Niemann–Pick sjukdomar
- MeSH C16.320.565.150.520 – lönnsirapsurinsjukdom
- MeSH C16.320.565.150.535 – MELAS syndrom
- MeSH C16.320.565.150.540 – Menkes kinky hair syndrome
- MeSH C16.320.565.150.545 – MERRF-syndrom
- MeSH C16.320.565.150.640 – oculocerebrorenalt syndrom
- MeSH C16.320.565.150.650 – ornitinkarbamoyltransferasbristsjukdom
- MeSH C16.320.565.150.680 – peroxisomala störningar
- MeSH C16.320.565.150.680.100 – adrenoleukodystrofi
- MeSH C16.320.565.150.680.760 – Refsum sjukdom
- MeSH C16.320.565.150.680.970 – Zellwegers syndrom
- MeSH C16.320.565.150.687 – fenylketonuri
- MeSH C16.320.565.150.687.500 – fenylketonuri, modern
- MeSH C16.320.565.150.725 – pyruvatkarboxylasbristsjukdom
- MeSH C16.320.565.150.750 – pyruvatdehydrogenaskomplexbristsjukdom
- MeSH C16.320.565.150.875 – tyrosinemier
- MeSH C16.320.565.202 – kolhydratmetabolism, medfödda fel
- MeSH C16.320.565.202.125 – kolhydratbrist glykoproteinsyndrom
- MeSH C16.320.565.202.251 – fruktosmetabolism, medfödda fel
- MeSH C16.320.565.202.251.221 – fruktos-1,6-difosfatasbrist
- MeSH C16.320.565.202.251.271 – Ärftlig fruktosintolerans
- MeSH C16.320.565.202.303 – fucosidos
- MeSH C16.320.565.202.355 – galaktosemi
- MeSH C16.320.565.202.449 – glykogenlagringssjukdom
- MeSH C16.320.565.202.449.448 – glykogenlagringssjukdom typ I
- MeSH C16.320.565.202.449.500 – glykogenlagringssjukdom typ II
- MeSH C16.320.565.202.449.510 – glykogenlagringssjukdom typ IIb
- MeSH C16.320.565.202.449.520 – glykogenlagringssjukdom typ III
- MeSH C16.320.565.202.449.540 – glykogenlagringssjukdom typ IV
- MeSH C16.320.565.202.449.560 – glykogenlagringssjukdom typ V
- MeSH C16.320.565.202.449.580 – glykogenlagringssjukdom typ VI
- MeSH C16.320.565.202.449.600 – glykogenlagringssjukdom typ VII
- MeSH C16.320.565.202.449.620 – glykogenlagringssjukdom typ VIII
- MeSH C16.320.565.202.460 – hyperoxaluri, primär
- MeSH C16.320.565.202.589 – laktosintolerans
- MeSH C16.320.565.202.607 – sjukdomar med mannosidasbrist
- MeSH C16.320.565.202.607.500 – alfa-mannosidos
- MeSH C16.320.565.202.607.750 – beta-mannosidos
- MeSH C16.320.565.202.670 – mukolipidoser
- MeSH C16.320.565.202.715 – mukopolysackaridoser
- MeSH C16.320.565.202.715.640 – mukopolysackaridos I
- MeSH C16.320.565.202.715.645 – mukopolysackaridos II
- MeSH C16.320.565.202.715.650 – mukopolysackaridos III
- MeSH C16.320.565.202.715.655 – mukopolysackaridos IV
- MeSH C16.320.565.202.715.670 – mukopolysackaridos VI
- MeSH C16.320.565.202.715.675 – mukopolysackaridos VII
- MeSH C16.320.565.202.720 – multipel karboxylasbrist
- MeSH C16.320.565.202.720.100 – biotinidasbrist
- MeSH C16.320.565.202.720.380 – holokarboxylassyntetasbrist
- MeSH C16.320.565.202.742 – nesidioblastos
- MeSH C16.320.565.202.765 – ihållande hyperinsulinemi hypoglykemi i spädbarnsåldern
- MeSH C16.320.565.202.810 – pyruvatmetabolism, medfödda fel
- MeSH C16.320.565.202.810.444 – Leigh disease
- MeSH C16.320.565.202.810.666 – pyruvatkarboxylasbristsjukdom
- MeSH C16.320.565.202.810.766 – pyruvatdehydrogenaskomplexbristsjukdom
- MeSH C16.320.565.240 – cytokrom-c-oxidasbrist
- MeSH C16.320.565.390 – glukosfosfatdehydrogenasbrist
- MeSH C16.320.565.437 – hyperbilirubinemi, ärftlig
- MeSH C16.320.565.437.281 – Crigler–Najjars syndrom
- MeSH C16.320.565.437.528 – Gilberts sjukdom
- MeSH C16.320.565.499 – gulsot, kronisk idiopatisk
- MeSH C16.320.565.556 – lipidmetabolism, medfödda fel
- MeSH C16.320.565.556.475 – hyperkolesterolemi, familjär
- MeSH C16.320.565.556.480 – hyperlipidemi, familjär kombinerad
- MeSH C16.320.565.556.480.390 – hyperkolesterolemi, familjär
- MeSH C16.320.565.556.480.395 – hyperlipoproteinemi typ IV
- MeSH C16.320.565.556.483 – hyperlipoproteinemi typ III
- MeSH C16.320.565.556.487 – hyperlipoproteinemi typ IV
- MeSH C16.320.565.556.493 – hyperlipoproteinemi typ V
- MeSH C16.320.565.556.500 – hypolipoproteinemi
- MeSH C16.320.565.556.500.220 – abetalipoproteinemi
- MeSH C16.320.565.556.500.440 – hypobetalipoproteinemi
- MeSH C16.320.565.556.500.448 – lecitinacyltransferasbrist
- MeSH C16.320.565.556.500.724 – Tangers sjukdom
- MeSH C16.320.565.556.641 – lipoidos
- MeSH C16.320.565.556.641.201 – kolesterolesterlagringssjukdom
- MeSH C16.320.565.556.641.391 – lipoidproteinos
- MeSH C16.320.565.556.641.509 – neuronal ceroid-lipofuscinosis
- MeSH C16.320.565.556.641.643 – refsum sjukdom
- MeSH C16.320.565.556.641.723 – Sjögren-Larssons syndrom
- MeSH C16.320.565.556.641.803 – sfingolipidoser
- MeSH C16.320.565.556.641.803.300 – Fabrys sjukdom
- MeSH C16.320.565.556.641.803.350 – gangliosidoser
- MeSH C16.320.565.556.641.803.350.300 – gangliosidoser GM2
- MeSH C16.320.565.556.641.803.350.300.700 – Sandhoffs sjukdom
- MeSH C16.320.565.556.641.803.350.300.850 – Tay–Sachs sjukdom
- MeSH C16.320.565.556.641.803.350.300.925 – Tay–Sachs sjukdom, AB-variant
- MeSH C16.320.565.556.641.803.350.360 – gangliosidos GM1
- MeSH C16.320.565.556.641.803.441 – Gauchers sjukdom
- MeSH C16.320.565.556.641.803.585 – leukodystrofi, globoid cell
- MeSH C16.320.565.556.641.803.594 – leukodystrofi, metakromatisk
- MeSH C16.320.565.556.641.803.730 – Niemann–Pick sjukdomar
- MeSH C16.320.565.556.641.803.850 – havsblått histiocytsyndrom
- MeSH C16.320.565.556.641.923 – Wolmans sjukdom
- MeSH C16.320.565.556.645 – lipoproteinlipasbrist, familjär
- MeSH C16.320.565.556.750 – peroxisomala störningar
- MeSH C16.320.565.556.750.025 – acatalasia
- MeSH C16.320.565.556.750.112 – adrenoleukodystrofi
- MeSH C16.320.565.556.750.200 – chondrodysplasia punctata, rhizomelic
- MeSH C16.320.565.556.750.760 – Refsum sjukdom
- MeSH C16.320.565.556.750.970 – Zellwegers syndrom
- MeSH C16.320.565.556.850 – Smith–Lemli–Opitz syndrom
- MeSH C16.320.565.556.925 – xantomatos, cerebrotendinös
- MeSH C16.320.565.580 – lysosomala lagringssjukdomar
- MeSH C16.320.565.580.201 – kolesterolesterlagringssjukdom
- MeSH C16.320.565.580.554 – lysosomala lagringssjukdomar, nervsystemet
- MeSH C16.320.565.580.554.295 – fucosidos
- MeSH C16.320.565.580.554.340 – glykogenlagringssjukdom typ II
- MeSH C16.320.565.580.554.590 – mukolipidoser
- MeSH C16.320.565.580.554.810 – sialinsyralagringssjukdom
- MeSH C16.320.565.580.554.825 – sfingolipidoser
- MeSH C16.320.565.580.554.825.200 – Fabrys sjukdom
- MeSH C16.320.565.580.554.825.300 – gangliosidoser
- MeSH C16.320.565.580.554.825.300.300 – gangliosidoser GM2
- MeSH C16.320.565.580.554.825.300.300.800 – Sandhoffs sjukdom
- MeSH C16.320.565.580.554.825.300.300.840 – Tay–Sachs sjukdom
- MeSH C16.320.565.580.554.825.300.300.920 – Tay–Sachs sjukdom, AB-variant
- MeSH C16.320.565.580.554.825.300.400 – gangliosidos GM1
- MeSH C16.320.565.580.554.825.400 – Gauchers sjukdom
- MeSH C16.320.565.580.554.825.590 – leukodystrofi, globoidcell
- MeSH C16.320.565.580.554.825.594 – leukodystrofi, metakromatisk
- MeSH C16.320.565.580.554.825.700 – Niemann–Pick sjukdomar
- MeSH C16.320.565.580.577 – sjukdomar med mannosidasbrist
- MeSH C16.320.565.580.577.500 – alfa-mannosidos
- MeSH C16.320.565.580.577.750 – beta-mannosidos
- MeSH C16.320.565.580.600 – mukopolysackaridoser
- MeSH C16.320.565.580.600.640 – mukopolysackaridos I
- MeSH C16.320.565.580.600.645 – mukopolysackaridos II
- MeSH C16.320.565.580.600.650 – mukopolysackaridos III
- MeSH C16.320.565.580.600.655 – mukopolysackaridos IV
- MeSH C16.320.565.580.600.670 – mukopolysackaridos VI
- MeSH C16.320.565.580.600.675 – mukopolysackaridos VII
- MeSH C16.320.565.580.803 – sfingolipidoser
- MeSH C16.320.565.580.803.300 – Fabrys sjukdom
- MeSH C16.320.565.580.803.350 – gangliosidoser
- MeSH C16.320.565.580.803.350.300 – gangliosidoser GM2
- MeSH C16.320.565.580.803.350.300.700 – Sandhoffs sjukdom
- MeSH C16.320.565.580.803.350.300.850 – Tay–Sachs sjukdom
- MeSH C16.320.565.580.803.350.300.925 – Tay–Sachs sjukdom, AB-variant
- MeSH C16.320.565.580.803.441 – Gauchers sjukdom
- MeSH C16.320.565.580.803.585 – leukodystrofi, globoid cell
- MeSH C16.320.565.580.803.594 – leukodystrofi, metakromatisk
- MeSH C16.320.565.580.803.730 – niemann-pick sjukdomar
- MeSH C16.320.565.580.803.850 – havsblått histiocytsyndrom
- MeSH C16.320.565.580.923 – Wolmans sjukdom
- MeSH C16.320.565.618 – metallmetabolism, medfödda fel
- MeSH C16.320.565.618.337 – hemokromatos
- MeSH C16.320.565.618.403 – hepatolentikulär degeneration
- MeSH C16.320.565.618.482 – hypofosfatasi
- MeSH C16.320.565.618.544 – hypofosfatemi, familjär
- MeSH C16.320.565.618.590 – Menkes kinky hair syndrome
- MeSH C16.320.565.618.711 – förlamningar, familjär periodisk
- MeSH C16.320.565.618.711.550 – hypokalemisk periodisk förlamning
- MeSH C16.320.565.618.711.600 – förlamning, hyperkalemisk periodisk
- MeSH C16.320.565.618.711.600.500 – Andersens syndrom
- MeSH C16.320.565.618.815 – pseudohypoparatyreos
- MeSH C16.320.565.618.815.815 – pseudopseudohypoparatyreoidism
- MeSH C16.320.565.731 – porfyri, erytropoetisk
- MeSH C16.320.565.735 – porfyri, lever
- MeSH C16.320.565.735.074 – koproporfyri, ärftlig
- MeSH C16.320.565.735.150 – porfyri, akut intermittent
- MeSH C16.320.565.735.250 – porphyria cutanea tarda
- MeSH C16.320.565.735.437 – porfyri, hepatoerytropoetisk
- MeSH C16.320.565.735.625 – porfyri, variegate
- MeSH C16.320.565.735.812 – protoporfyri, erytropoetisk
- MeSH C16.320.565.769 – progeria
- MeSH C16.320.565.798 – purin–pyrimidinmetabolism, medfödda fel
- MeSH C16.320.565.798.368 – gikt
- MeSH C16.320.565.798.368.410 – artrit, gikt
- MeSH C16.320.565.798.594 – Lesch–Nyhans syndrom
- MeSH C16.320.565.851 – njurrörstransport, medfödda fel
- MeSH C16.320.565.851.093 – acidos, renal tubulär
- MeSH C16.320.565.851.191 – aminoaciduri, renal
- MeSH C16.320.565.851.191.250 – cystinuri
- MeSH C16.320.565.851.191.457 – Hartnups sjukdom
- MeSH C16.320.565.851.368 – cystinos
- MeSH C16.320.565.851.368.210 – Fanconis syndrom
- MeSH C16.320.565.851.532 – glykosuri, njure
- MeSH C16.320.565.851.647 – hypofosfatemi, familjär
- MeSH C16.320.565.851.750 – oculocerebrorenalt syndrom
- MeSH C16.320.565.851.770 – pseudohypoaldosteronism
- MeSH C16.320.565.925 – steroidmetabolism, medfödda fel
- MeSH C16.320.565.925.249 – binjurehyperplasi, medfödd
- MeSH C16.320.565.925.500 – mineralokortikoid överskottssyndrom, uppenbart
- MeSH C16.320.565.925.750 – iktyos, x-länkad
- MeSH C16.320.565.925.875 – Smith–Lemli–Opitz syndrom
MeSH C16.320.577 – muskeldystrofier
- MeSH C16.320.577.074 – distala myopatier
- MeSH C16.320.577.149 – glykogenlagringssjukdom typ VII
- MeSH C16.320.577.280 – muskeldystrofier, lem-gördel
- MeSH C16.320.577.300 – muskeldystrofi, Duchenne
- MeSH C16.320.577.350 – muskeldystrofi, Emery–Dreifuss
- MeSH C16.320.577.400 – muskeldystrofi, facioskapulohumeral
- MeSH C16.320.577.450 – muskeldystrofi, oculopharyngeal
- MeSH C16.320.577.500 – myotonisk dystrofi
MeSH C16.320.590 – myasteniska syndrom, medfödda
MeSH C16.320.600 – nagel-patella syndrom
MeSH C16.320.700 – neoplastiska syndrom, ärftliga
- MeSH C16.320.700.100 – adenomatös polypos coli
- MeSH C16.320.700.100.393 – Gardners syndrom
- MeSH C16.320.700.175 – basalcellsnevussyndrom
- MeSH C16.320.700.250 – kolorektala neoplasmer, ärftlig icke-polypos
- MeSH C16.320.700.305 – dysplastiskt nevussyndrom
- MeSH C16.320.700.330 – exostoser, multipel ärftlig
- MeSH C16.320.700.435 – hamartomsyndrom, multipel
- MeSH C16.320.700.600 – Li–Fraumeni syndrom
- MeSH C16.320.700.630 – multipel endokrin neoplasi
- MeSH C16.320.700.630.500 – multipel endokrin neoplasi typ 1
- MeSH C16.320.700.630.505 – multipel endokrin neoplasi typ 2a
- MeSH C16.320.700.630.510 – multipel endokrin neoplasi typ 2b
- MeSH C16.320.700.642 – Wilms tumör
- MeSH C16.320.700.642.220 – Denys–Drash syndrom
- MeSH C16.320.700.642.950 – WAGR syndrom
- MeSH C16.320.700.645 – Neurofibromatos
- MeSH C16.320.700.645.650 – neurofibromatos 1
- MeSH C16.320.700.645.655 – neurofibromatos 2
- MeSH C16.320.700.705 – Peutz–Jeghers syndrom
- MeSH C16.320.700.852 – Sturge–Webers syndrom
MeSH C16.320.737 – osteogenesis imperfecta
MeSH C16.320.775 – smärtokänslighet, medfödd
MeSH C16.320.800 – Romano–Ward syndrom
MeSH C16.320.850 – hudsjukdomar, genetiska
- MeSH C16.320.850.080 – albinism
- MeSH C16.320.850.080.090 – albinism, okulär
- MeSH C16.320.850.080.100 – albinism, oculocutaneous
- MeSH C16.320.850.080.100.400 – Hermansky–Pudlaks syndrom
- MeSH C16.320.850.080.600 – piebaldism
- MeSH C16.320.850.180 – cutis laxa
- MeSH C16.320.850.210 – dermatit, atopisk
- MeSH C16.320.850.235 – dyseratosis congenita
- MeSH C16.320.850.250 – ektodermal dysplasi
- MeSH C16.320.850.250.398 – Ellis–van Crevelds syndrom
- MeSH C16.320.850.250.424 – fokal dermal hypoplasi
- MeSH C16.320.850.250.712 – neurokutana syndrom
- MeSH C16.320.850.260 – Ehlers–Danlos syndrom
- MeSH C16.320.850.275 – epidermolysis bullosa
- MeSH C16.320.850.275.160 – epidermolysis bullosa dystrophica
- MeSH C16.320.850.275.170 – epidermolysis bullosa, junctional
- MeSH C16.320.850.275.180 – epidermolysis bullosa simplex
- MeSH C16.320.850.400 – iktyosiform erytrodermi, medfödd
- MeSH C16.320.850.400.375 – hyperkeratos, epidermolytisk
- MeSH C16.320.850.400.410 – iktyos, lamellär
- MeSH C16.320.850.405 – ichthyosis vulgaris
- MeSH C16.320.850.408 – iktyos, x-bunden
- MeSH C16.320.850.420 – incontinentia pigmenti
- MeSH C16.320.850.475 – keratoderma, palmoplantar
- MeSH C16.320.850.475.440 – keratoderma, palmoplantar, diffus
- MeSH C16.320.850.475.600 – Papillon–Lefèvres sjukdom
- MeSH C16.320.850.490 – keratosis follicularis
- MeSH C16.320.850.700 – pemphigus, benign familjär
- MeSH C16.320.850.730 – porokeratos
- MeSH C16.320.850.738 – porfyri, erytropoetisk
- MeSH C16.320.850.742 – porfyri, lever
- MeSH C16.320.850.742.074 – koproporfyri, ärftlig
- MeSH C16.320.850.742.150 – porfyri, akut intermittent
- MeSH C16.320.850.742.250 – porphyria cutanea tarda
- MeSH C16.320.850.742.437 – porfyri, hepatoerytropoetisk
- MeSH C16.320.850.742.625 – porfyri, variegate
- MeSH C16.320.850.742.812 – protoporfyri, erytropoetisk
- MeSH C16.320.850.750 – pseudoxanthoma elasticum
- MeSH C16.320.850.765 – Rothmund–Thomsons syndrom
- MeSH C16.320.850.820 – Sjögren–Larssons syndrom
- MeSH C16.320.850.970 – xeroderma pigmentosum
MeSH C16.320.925 – Werners syndrom
MeSH C16.614 – spädbarn, nyfödda, sjukdomar
MeSH C16.614.042 – amniotic band syndrome
MeSH C16.614.053 – anemi, neonatal
- MeSH C16.614.053.344 – fetofetal transfusion
- MeSH C16.614.053.511 – fostertransfusion
MeSH C16.614.092 – asphyxia neonatorum
MeSH C16.614.131 – födelseskador
- MeSH C16.614.131.587 – förlamning, obstetrisk
MeSH C16.614.213 – cystisk fibros
MeSH C16.614.258 – epilepsi, benign neonatal
MeSH C16.614.304 – erytroblastos, foster
MeSH C16.614.378 – hemorragisk sjukdom hos nyfödda
MeSH C16.614.390 – bråck, navelsträng
MeSH C16.614.414 – hydrocefalus
MeSH C16.614.438 – hydroftalmos
MeSH C16.614.451 – hyperbilirubinemi, neonatal
MeSH C16.614.465 – hyperostos, kortikal, medfödd
MeSH C16.614.492 – iktyos
- MeSH C16.614.492.400 – iktyosiform erytrodermi, medfödd
- MeSH C16.614.492.400.375 – hyperkeratos, epidermolytisk
- MeSH C16.614.492.400.410 – iktyos, lamellär
- MeSH C16.614.492.420 – iktyos, x-bunden
- MeSH C16.614.492.723 – Sjögren–Larssons syndrom
MeSH C16.614.521 – spädbarn, för tidigt födda, sjukdomar
- MeSH C16.614.521.125 – bronkopulmonell dysplasi
- MeSH C16.614.521.450 – leukomalaci, periventrikulär
- MeSH C16.614.521.563 – respiratory distress syndrome, nyfödd
- MeSH C16.614.521.563.475 – hyalin membransjukdom
- MeSH C16.614.521.731 – retinopati av prematuritet
MeSH C16.614.580 – mekoniumaspirationssyndrom
MeSH C16.614.595 – Möbius syndrom
MeSH C16.614.610 – neonatalt abstinenssyndrom
MeSH C16.614.643 – nystagmus, medfödd
MeSH C16.614.677 – ophthalmia neonatorum
MeSH C16.614.694 – persistent fetalt cirkulationssyndrom
MeSH C16.614.716 – ihållande hyperinsulinemi hypoglykemi i spädbarnsåldern
MeSH C16.614.760 – Rothmund–Thomsons syndrom
MeSH C16.614.810 – sclerema neonatorum
MeSH C16.614.815 – svår kombinerad immunbrist
MeSH C16.614.868 – syfilis, medfödd
MeSH C16.614.890 – thanatoforisk dysplasi
MeSH C16.614.909 – toxoplasmos, medfödd
MeSH C16.614.947 – Wolmans sjukdom
Listan fortsätter vid Lista över MeSH-koder (C17) .
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