Hereditary disorder of the integument

Code	`363185004`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

720464003ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome disorder

783160006AGel amyloidosis disorder

1197746001AKT2-related familial partial lipodystrophy disorder

719595002Absence of fingerprints with congenital milia syndrome disorder

718715007Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome disorder

722280000Ackerman syndrome disorder

400085009Acrokeratosis verruciformis of Hopf disorder

34748004Adams-Oliver syndrome disorder

722281001Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome disorder

720981000Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome disorder

720979002Alopecia, contracture, dwarfism, intellectual disability syndrome disorder

788417006Alopecia, epilepsy, intellectual disability syndrome Moynahan type disorder

239050000Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections disorder

770941005Alopecia, progressive neurological defect, endocrinopathy syndrome disorder

720980004Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome disorder

720983002Amaurosis hypertrichosis syndrome disorder

715404000Amelo-onycho-hypohidrotic syndrome disorder

109478007Amelocerebrohypohidrotic syndrome disorder

1354646005Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation disorder

1366698006Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB GOF mutation disorder

720986005Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome disorder

720494009Anonychia with microcephaly syndrome disorder

723554006Aplasia cutis congenita with epibulbar dermoid syndrome disorder

720500008Aplasia cutis congenita with intestinal lymphangiectasia syndrome disorder

720499004Aplasia cutis with myopia syndrome disorder

786039009Arthrogryposis and ectodermal dysplasia syndrome disorder

2736005Atrophoderma vermiculatum disorder

403794008Autosomal dominant familial woolly hair disorder

7731005Autosomal dominant hypohidrotic ectodermal dysplasia syndrome disorder

1187115008Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome disorder

403795009Autosomal recessive familial woolly hair disorder

1342372000Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency disorder

27025001Autosomal recessive hypohidrotic ectodermal dysplasia syndrome disorder

782878007Autosomal recessive nail dysplasia disorder

722376008Autosomal recessive popliteal pterygium syndrome disorder

1197747005Autosomal semi-dominant severe lipodystrophic laminopathy disorder

254819008B-K mole (nevus) syndrome disorder

722375007Bamforth Lazarus syndrome disorder

1263460007Birt Hogg Dubé syndrome disorder

67817003Björnstad syndrome disorder

717911008Blepharocheilodontic syndrome disorder

722296002Book syndrome disorder

720573009Brachymorphism with onychodysplasia and dysphalangism syndrome disorder

703531009Brooke-Spiegler syndrome disorder

725589005Bullous dystrophy macular type disorder

1336113009CADINS disease disorder

726031001CAMOS syndrome disorder

17608003CHILD syndrome disorder

1197749008CIDEC-related familial partial lipodystrophy disorder

703533007Capillary malformation-arteriovenous malformation syndrome disorder

715371006Cerebellar ataxia and ectodermal dysplasia disorder

720852000Cervical hypertrichosis and peripheral neuropathy syndrome disorder

398958000Chondrodysplasia punctata, X-linked dominant type disorder

720639008Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome disorder

763213001Conductive deafness, ptosis, skeletal anomalies syndrome disorder

722379001Congenital cataract with hypertrichosis and intellectual disability syndrome disorder

13059002Congenital ichthyosis of skin disorder

1279834007Congenital insensitivity to pain, hyperhidrosis, absence of cutaneous sensory innervation disorder

1254893000Congenital isolated onychodysplasia disorder

6874009Congenital keratoderma disorder

722391005Congenital lethal erythroderma disorder

720746006Contracture with ectodermal dysplasia and orofacial cleft syndrome disorder

720747002Cooks syndrome disorder

702361006Crouzon syndrome with acanthosis nigricans disorder

277807007Curry-Hall syndrome disorder

720820000Cutaneous photosensitivity and lethal colitis syndrome disorder

703528008Cutis gyrata syndrome of Beare and Stevenson disorder

721084001Deaf blind hypopigmentation syndrome Yemenite type disorder

773735007Deafness with onychodystrophy syndrome disorder

721085000Deafness, enamel hypoplasia, nail defect syndrome disorder

733069009Deafness, vitiligo, achalasia syndrome disorder

784339002Deficiency of interleukin 36 receptor antagonist disorder

733044009Dermatoleukodystrophy disorder

721090002Dermatoosteolysis Kirghizian type disorder

721091003Dermo-odonto dysplasia disorder

8634009Distichiasis-lymphoedema syndrome disorder

74911008Dyskeratosis congenita disorder

732953008Ectodermal dysplasia and sensorineural deafness syndrome disorder

771335004Ectodermal dysplasia syndactyly syndrome disorder

734018003Ectodermal dysplasia trichoodontoonychial type disorder

721208007Ectodermal dysplasia with blindness syndrome disorder

720856002Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome disorder

715576000Ectodermal dysplasia with natal teeth Turnpenny type disorder

734017008Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome disorder

733457006Ehlers-Danlos and osteogenesis imperfecta syndrome disorder

398114001Ehlers-Danlos syndrome disorder

19138001Epidermodysplasia verruciformis disorder

61003004Epidermolysis bullosa disorder

763767006Erythema palmare hereditarium disorder

1179293006Erythrokeratodermia cardiomyopathy syndrome disorder

733416004Exostosis, anetoderma, brachydactyly type E syndrome disorder

1348303000F12-associated cold autoinflammatory syndrome disorder

782949007Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome disorder

771515001Facial dysmorphism, immunodeficiency, livedo, short stature syndrome disorder

77759009Familial acantholysis disorder

15123008Familial amyloid nephropathy with urticaria AND deafness disorder

774066000Familial angiolipomatosis disorder

79468000Familial benign pemphigus disorder

1220590003Familial chilblain lupus erythematosus disorder

238687000Familial cold urticaria disorder

239139000Familial cutaneous collagenoma disorder

782823001Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome disorder

254219004Familial dyskeratotic comedones disorder

764523004Familial isolated trichomegaly disorder

237870002Familial lichen amyloidosis disorder

726019003Familial malignant melanoma of skin disorder

1222705009Familial multiple discoid fibroma disorder

715439000Familial partial lipodystrophy Dunnigan type disorder

725035001Familial partial lipodystrophy Kobberling type disorder

59229005Familial porphyria cutanea tarda disorder

763368004Familial progressive hyper and hypopigmentation disorder

205573006Focal dermal hypoplasia disorder

789157007Focal facial dermal dysplasia type I disorder

789159005Focal facial dermal dysplasia type II disorder

789161001Focal facial dermal dysplasia type IV disorder

254820002Follicular atrophoderma and basal cell epitheliomata disorder

716088000Follicular hamartoma with alopecia and cystic fibrosis syndrome disorder

254150007Francois syndrome disorder

725029001Frontonasal dysplasia with alopecia and genital anomaly syndrome disorder

1332358007Full schwannomatosis disorder

721843003GAPO syndrome disorder

782946000Gastrocutaneous syndrome disorder

766928004Generalised basaloid follicular hamartoma syndrome disorder

1156814008Generalised congenital lipodystrophy with myopathy disorder

716008002Gingival fibromatosis and hypertrichosis syndrome disorder

1222658006Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome disorder

715644000Glomuvenous malformation disorder

69408002Gorlin syndrome disorder

699861000Granulomatous inflammatory arthritis, dermatitis and uveitis, familial disorder

1217380005HELIX syndrome disorder

721007005Hair defect with photosensitivity and intellectual disability syndrome disorder

722453009Hennekam Beemer syndrome disorder

254217002Hereditary acantholytic dermatosis disorder

37702000Hereditary acrodermatitis enteropathica disorder

733467001Hereditary anetoderma disorder

400014002Hereditary benign intraepithelial dyskeratosis disorder

239055005Hereditary clubbing disorder

733469003Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome disorder

1254945005Hereditary distal onycholysis disorder

254218007Hereditary follicular keratoses disorder

403804008Hereditary hypermelanosis disorder

723362004Hereditary hypotrichosis simplex disorder

724350009Hereditary hypotrichosis with recurrent skin vesicles syndrome disorder

716774008Hereditary keratoacanthoma disorder

1162799008Hereditary leiomyomatosis and renal cell carcinoma disorder

400211001Hereditary lymphoedema and yellow nails disorder

403775003Hereditary neurocutaneous angiomata disorder

239066003Hereditary palmoplantar keratoderma disorder

771300001Hereditary progressive mucinous histiocytosis disorder

238834002Hereditary sclerosing poikiloderma disorder

724851004Hereditary skin fragility disorder

278523002Hereditary striate leuconychia disorder

402459005Heredofamilial systemic amyloidosis affecting skin disorder

771239007Hidrotic ectodermal dysplasia Christianson Fourie type disorder

721147000Hidrotic ectodermal dysplasia Halal type disorder

721223002Hirschsprung disease with nail hypoplasia and dysmorphism disorder

711159002Histiocytosis-lymphadenopathy plus syndrome disorder

771181009Hypertrichosis cubiti disorder

239021007Hypodontia and nail dysgenesis disorder

721842008Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome disorder

723001002Hypohidrosis due to genetic abnormality of eccrine gland structure and function disorder

239007005Hypohidrotic X-linked ectodermal dysplasia disorder

783555001Hypotrichosis and deafness syndrome disorder

723365002Hypotrichosis and intellectual disability syndrome Lopes type disorder

723364003Hypotrichosis with juvenile macular degeneration syndrome disorder

723363009Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome disorder

367520004Incontinentia pigmenti syndrome disorder

238867003Infantile systemic hyalinosis disorder

239079007Inherited cutaneous hyperpigmentation disorder

254220005Inherited cutis laxa disorder

402776008Inherited deformity of nail disorder

722455002Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome disorder

774102003Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome disorder

717963001Isolated anterior cervical hypertrichosis disorder

763748007Isolated congenital adermatoglyphia disorder

1187178004Isolated generalised anhidrosis with normal sweat glands disorder

721584005Johnson neuroectodermal syndrome disorder

721873007Joubert syndrome with orofaciodigital defect disorder

238861002Juvenile hyaline fibromatosis disorder

1217370006LAMA5-related multisystemic syndrome disorder

1197751007LIPE-related familial partial lipodystrophy disorder

703541007Legius syndrome disorder

719429003Lelis syndrome disorder

721972001Limb mammary syndrome disorder

38692000Lipid proteinosis disorder

721973006Lipodystrophy, intellectual disability, deafness syndrome disorder

721083007Lymphoedema hypoparathyroidism syndrome disorder

723366001Macrostomia, preauricular tag, external ophthalmoplegia syndrome disorder

782739000Male emopamil-binding protein disorder with neurological defect disorder

718679004Mammary digital nail syndrome disorder

109419009Mandibuloacral dysostosis disorder

254234005Marie Unna syndrome disorder

717968005Melanoma and neural system tumour syndrome disorder

59178007Menkes kinky-hair syndrome disorder

1172683008Microcephaly, congenital cataract, psoriasiform dermatitis syndrome disorder

721879006Microphthalmia with linear skin defect syndrome disorder

1779005Mohr syndrome disorder

111306001Multiple lentigines syndrome disorder

205819008Multiple pterygium syndrome disorder

254659009Multiple self-healing epithelioma of Ferguson-Smith disorder

22199006Nail-patella syndrome disorder

773662009Neonatal inflammatory skin and bowel disease disorder

402851000Neonatal purpura fulminans due to homozygous protein C deficiency disorder

724091002Neuroectodermal melanolysosomal disease disorder

92824003Neurofibromatosis type 1 disorder

1208340009Neurofibromatosis type 6 disorder

733203002Non-androgenic hypertrichosis with genetic disease disorder

723444009Noonan syndrome-like disorder with loose anagen hair disorder

716174001Oculocerebral hypopigmentation syndrome of Preus type disorder

63844009Oculocutaneous albinism disorder

722061006Oculoosteocutaneous syndrome disorder

722062004Oculotrichodysplasia disorder

722063009Odonto-tricho-ungual-digito-palmar syndrome disorder

239028001Odontotrichomelic syndrome disorder

719944006Oliver McFarlane syndrome disorder

763837007Oro-facial digital syndrome type 14 disorder

722105002Oro-facial digital syndrome type 5 disorder

722106001Oro-facial digital syndrome type 8 disorder

718680001Oro-facial digital syndrome type 9 disorder

239030004Orofacial-digital syndrome III disorder

239031000Orofacial-digital syndrome IV disorder

732954002Osteopenia, intellectual disability, sparse hair syndrome disorder

722113001Osteoporosis and oculocutaneous hypopigmentation syndrome disorder

441944007Oto-onycho-peroneal syndrome disorder

1197745002PPARG-related familial partial lipodystrophy disorder

722859001PTEN hamartoma tumour syndrome disorder

88220006Pachydermoperiostosis syndrome disorder

783013001Parana hard skin syndrome disorder

783616005Perilipin 1 related familial partial lipodystrophy disorder

765325002Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease disorder

716191002Perniola Krajewska Carnevale syndrome disorder

54411001Peutz-Jeghers syndrome disorder

403807001Phylloid hypomelanosis disorder

773984007Piebald trait with neurologic defects syndrome disorder

718122005Piebaldism disorder

723451000Pili torti onychodysplasia syndrome disorder

771240009Pilodental dysplasia, refractive errors syndrome disorder

772126000Poikiloderma with neutropenia disorder

771186004Poikiloderma, alopecia, retrognathism, cleft palate syndrome disorder

237872005Poikilodermal cutaneous amyloid disorder

718218005Porokeratosis plantaris palmaris et disseminata disorder

399959003Premature ageing syndrome disorder

719275009Primary hypergonadotropic hypogonadism and partial alopecia syndrome disorder

23150001Proteus syndrome disorder

1220599002Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa disorder

719256004Pterygium colli with intellectual disability and digital anomaly syndrome disorder

724015007Pyogenic arthritis, pyoderma gangrenosum, acne syndrome disorder

723500009Recessive aplasia cutis congenita of limbs disorder

239133004Reticulate acropigmentation of Kitamura disorder

721904001Rombo syndrome disorder

69093006Rothmund-Thomson syndrome disorder

721888002Scalp, ear, nipple syndrome disorder

18899000Schinzel-Giedion syndrome disorder

722002002Scholte syndrome disorder

782910009Seborrhoea-like dermatitis with psoriasiform elements disorder

723721007Sensorineural hearing loss, early greying, essential tremor syndrome disorder

720345008Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome disorder

874931001Severe achondroplasia, developmental delay, acanthosis nigricans syndrome disorder

774211005Severe dermatitis, multiple allergies, metabolic wasting syndrome disorder

1172629005Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome disorder

773555005Severe neurodegenerative syndrome with lipodystrophy disorder

721073008Short stature with webbed neck and congenital heart disease syndrome disorder

773625007Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome disorder

721075001Short tarsus with absence of lower eyelashes syndrome disorder

719255000Spinocerebellar ataxia type 34 disorder

1172635005Split-foot malformation, mesoaxial polydactyly syndrome disorder

773300008Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome disorder

109433009Steatocystoma multiplex disorder

773702002Sterile multifocal osteomyelitis with periostitis and pustulosis disorder

723584003Stern Lubinsky Durrie syndrome disorder

1222708006TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome disorder

719945007Taurodontia with absent teeth and sparse hair syndrome disorder

771265006Teebi Shaltout syndrome disorder

725140007Temple Baraitser syndrome disorder

771266007Torticollis, keloids, cryptorchidism, renal dysplasia syndrome disorder

719911000Trichodysplasia with amelogenesis imperfecta syndrome disorder

766812005Trichodysplasia xeroderma syndrome disorder

766813000Trichoodontoonychial dysplasia disorder

723551003Trichothiodystrophy disorder

7199000Tuberous sclerosis syndrome disorder

698253007Ultraviolet sensitive syndrome disorder

719910004Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome disorder

373420004Upshaw-Schulman syndrome disorder

733110004Van den Bosch syndrome disorder

719824001Vici syndrome disorder

46659004Von Hippel-Lindau syndrome disorder

715952000Waardenburg Shah syndrome disorder

1186725001Warts, immunodeficiency, lymphoedema, anogenital dysplasia syndrome disorder

763619009White forelock with malformations syndrome disorder

763618001Wiedemann Steiner syndrome disorder

816067005Woodhouse Sakati syndrome disorder

1010628009X-linked congenital generalised hypertrichosis disorder

719810000X-linked intellectual disability with seizure and psoriasis syndrome disorder

1172692006X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome disorder

717224002X-linked reticulate pigmentary disorder with systemic manifestation syndrome disorder

7037003XTE syndrome disorder

44600005Xeroderma pigmentosum disorder

716248001Zlotogora Ogur syndrome disorder

Hereditary disorder of the integument

Parents (2)

Children (298)