| children | - Absence of fingerprints with congenital milia syndrome 719595002
- Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome 718715007
- Ackerman syndrome 722280000
- ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome 720464003
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome 722281001
- AGel amyloidosis 783160006
- Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome 720981000
- Alopecia, contracture, dwarfism, intellectual disability syndrome 720979002
- Alopecia, epilepsy, intellectual disability syndrome Moynahan type 788417006
- Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections 239050000
- Alopecia, progressive neurological defect, endocrinopathy syndrome 770941005
- Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome 720980004
- Amaurosis hypertrichosis syndrome 720983002
- Amelo-onycho-hypohidrotic syndrome 715404000
- Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome 720986005
- Anonychia with microcephaly syndrome 720494009
- Aplasia cutis congenita with epibulbar dermoid syndrome 723554006
- Aplasia cutis congenita with intestinal lymphangiectasia syndrome 720500008
- Aplasia cutis with myopia syndrome 720499004
- Arthrogryposis and ectodermal dysplasia syndrome 786039009
- Ataxia, photosensitivity, short stature syndrome 773769008
- Ataxia-telangiectasia syndrome 68504005
- Autosomal dominant familial wooly hair 403794008
- Autosomal dominant hypohidrotic ectodermal dysplasia syndrome 7731005
- Autosomal recessive familial wooly hair 403795009
- Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 27025001
- Autosomal recessive nail dysplasia 782878007
- Autosomal recessive popliteal pterygium syndrome 722376008
- B-K mole (nevus) syndrome 254819008
- Bamforth Lazarus syndrome 722375007
- Blepharocheilodontic syndrome 717911008
- Book syndrome 722296002
- Brachymorphism with onychodysplasia and dysphalangism syndrome 720573009
- Brooke-Spiegler syndrome 703531009
- Bullous dystrophy macular type 725589005
- CAMOS syndrome 726031001
- Capillary malformation-arteriovenous malformation syndrome 703533007
- Cerebellar ataxia and ectodermal dysplasia 715371006
- Cervical hypertrichosis and peripheral neuropathy syndrome 720852000
- Cholestanol storage disease 63246000
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008
- Conductive deafness, ptosis, skeletal anomalies syndrome 763213001
- Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001
- Congenital lethal erythroderma 722391005
- Contracture with ectodermal dysplasia and orofacial cleft syndrome 720746006
- Cooks syndrome 720747002
- Crouzon syndrome with acanthosis nigricans 702361006
- Cutaneous photosensitivity and lethal colitis syndrome 720820000
- Cutis gyrata syndrome of Beare and Stevenson 703528008
- Deafness with onychodystrophy syndrome 773735007
- Deafness, enamel hypoplasia, nail defect syndrome 721085000
- Deficiency of interleukin 36 receptor antagonist 784339002
- Dermatoleukodystrophy 733044009
- Dermatoosteolysis Kirghizian type 721090002
- Dermo-odonto dysplasia 721091003
- Distichiasis-lymphedema syndrome 8634009
- Dyskeratosis congenita 74911008
- Ectodermal dysplasia and sensorineural deafness syndrome 732953008
- Ectodermal dysplasia syndactyly syndrome 771335004
- Ectodermal dysplasia trichoodontoonychial type 734018003
- Ectodermal dysplasia with blindness syndrome 721208007
- Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome 720856002
- Ectodermal dysplasia with natal teeth Turnpenny type 715576000
- Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome 734017008
- Ehlers-Danlos syndrome 398114001
- Epidermodysplasia verruciformis 19138001
- Epidermolysis bullosa 61003004
- Erythema palmare hereditarium 763767006
- Fabry's disease 16652001
- Facial dysmorphism, immunodeficiency, livedo, short stature syndrome 771515001
- Familial acantholysis 77759009
- Familial angiolipomatosis 774066000
- Familial cold urticaria 238687000
- Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome 782823001
- Familial dyskeratotic comedones 254219004
- Familial isolated trichomegaly 764523004
- Familial malignant melanoma of skin 726019003
- Familial multiple fibrofolliculoma 723361006 removed: 2020-01-31
- Familial partial lipodystrophy Dunnigan type 715439000
- Familial partial lipodystrophy Kobberling type 725035001
- Familial porphyria cutanea tarda 59229005
- Farber's lipogranulomatosis 79935000
- Focal dermal hypoplasia 205573006
- Focal facial dermal dysplasia type I 789157007
- Focal facial dermal dysplasia type II 789159005
- Focal facial dermal dysplasia type IV 789161001
- Follicular atrophoderma and basal cell epitheliomata 254820002
- Francois syndrome 254150007
- Frontonasal dysplasia with alopecia and genital anomaly syndrome 725029001
- GAPO syndrome 721843003
- Generalized basaloid follicular hamartoma syndrome 766928004
- Genetic disorder of skin pigmentation 724839001
- Gingival fibromatosis and hypertrichosis syndrome 716008002
- Glomuvenous malformation 715644000
- Gorlin syndrome 69408002
- Granulomatous inflammatory arthritis, dermatitis and uveitis, familial 699861000
- Hair defect with photosensitivity and intellectual disability syndrome 721007005
- Hennekam Beemer syndrome 722453009
- Hereditary acrodermatitis enteropathica 37702000
- Hereditary anetoderma 733467001
- Hereditary benign intraepithelial dyskeratosis 400014002
- Hereditary benign telangiectasia 238764001
- Hereditary hypotrichosis simplex 723362004
- Hereditary hypotrichosis with recurrent skin vesicles syndrome 724350009
- Hereditary keratoacanthoma 716774008
- Hereditary neurocutaneous angiomata 403775003
- Hereditary palmoplantar keratoderma 239066003
- Hereditary progressive mucinous histiocytosis 771300001
- Hereditary sclerosing poikiloderma 238834002
- Hereditary skin fragility 724851004
- Hereditary striate leuconychia 278523002
- Heredofamilial systemic amyloidosis affecting skin 402459005
- Hidrotic ectodermal dysplasia Christianson Fourie type 771239007
- Hidrotic ectodermal dysplasia Halal type 721147000
- Hirschsprung disease with nail hypoplasia and dysmorphism 721223002
- Hypertrichosis and acromegaloid facial appearance syndrome 721837000
- Hypertrichosis cubiti 771181009
- Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome 721842008
- Hypohidrosis due to genetic abnormality of eccrine gland structure and function 723001002
- Hypohidrotic X-linked ectodermal dysplasia 239007005
- Hypotrichosis and intellectual disability syndrome Lopes type 723365002
- Hypotrichosis with juvenile macular degeneration syndrome 723364003
- Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome 723363009
- Incontinentia pigmenti syndrome 367520004
- Inherited cutis laxa 254220005
- Inherited deformity of nail 402776008
- Inherited disorder of keratinization 254214009
- Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome 722455002
- Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome 774102003
- Isolated anterior cervical hypertrichosis 717963001
- Isolated congenital adermatoglyphia 763748007
- Johnson neuroectodermal syndrome 721584005
- Joubert syndrome with orofaciodigital defect 721873007
- Kohlschutter's syndrome 109478007
- Limb mammary syndrome 721972001
- Lipid proteinosis 38692000
- Lipodystrophy, intellectual disability, deafness syndrome 721973006
- Lymphedema hypoparathyroidism syndrome 721083007
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome 723366001
- Male emopamil-binding protein disorder with neurological defect 782739000
- Mammary digital nail syndrome 718679004
- Mandibuloacral dysostosis 109419009
- Marie Unna syndrome 254234005
- Melanoma and neural system tumor syndrome 717968005
- Menkes kinky-hair syndrome 59178007
- Microphthalmia with linear skin defect syndrome 721879006
- Multiple fibrofolliculomas 110985001
- Multiple lentigines syndrome 111306001
- Multiple pterygium syndrome 205819008
- Multiple self-healing epithelioma of Ferguson-Smith 254659009
- Nail-patella syndrome 22199006
- Neonatal inflammatory skin and bowel disease 773662009
- Neonatal purpura fulminans (homozygous protein C deficiency) 402851000
- Neurofibromatosis type 1 92824003
- Neurofibromatosis type 2 92503002
- Non-androgenic hypertrichosis with genetic disease 733203002
- Noonan syndrome-like disorder with loose anagen hair 723444009
- Oculoosteocutaneous syndrome 722061006
- Oculotrichodysplasia 722062004
- Odonto-tricho-ungual-digito-palmar syndrome 722063009
- Odontotrichomelic syndrome 239028001
- Oliver McFarlane syndrome 719944006
- Oro-facial digital syndrome type 1 763833006
- Oro-facial digital syndrome type 14 763837007
- Oro-facial digital syndrome type 5 722105002
- Oro-facial digital syndrome type 8 722106001
- Oro-facial digital syndrome type 9 718680001
- Osler hemorrhagic telangiectasia syndrome 21877004
- Osteopenia, intellectual disability, sparse hair syndrome 732954002
- Oto-onycho-peroneal syndrome 441944007
- Pachydermoperiostosis syndrome 88220006
- Pachyonychia congenita syndrome 39427000
- Parana hard skin syndrome 783013001
- Perilipin 1 related familial partial lipodystrophy 783616005
- Perniola Krajewska Carnevale syndrome 716191002
- Peutz-Jeghers syndrome 54411001
- Pili torti onychodysplasia syndrome 723451000
- Pili torti-deafness syndrome 67817003
- Pilodental dysplasia, refractive errors syndrome 771240009
- Poikiloderma with neutropenia 772126000
- Poikiloderma, alopecia, retrognathism, cleft palate syndrome 771186004
- Premature aging syndrome 399959003
- Primary hypergonadotropic hypogonadism and partial alopecia syndrome 719275009
- Progeria syndrome 190590004 removed: 2003-07-31
- PTEN hamartoma tumor syndrome 722859001
- Pterygium colli with intellectual disability and digital anomaly syndrome 719256004
- Pyogenic arthritis, pyoderma gangrenosum, acne syndrome 724015007
- Recessive aplasia cutis congenita of limbs 723500009
- Rombo syndrome 721904001
- Rothmund-Thomson syndrome 69093006
- Scalp, ear, nipple syndrome 721888002
- Schinzel-Giedion syndrome 18899000
- Scholte syndrome 722002002
- Seborrhea-like dermatitis with psoriasiform elements 782910009
- Sensorineural hearing loss, early graying, essential tremor syndrome 723721007
- Severe achondrolasia with developmental delay and acanthosis nigricans 699870002
- Severe dermatitis, multiple allergies, metabolic wasting syndrome 774211005
- Severe neurodegenerative syndrome with lipodystrophy 773555005
- Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome 720345008
- Short stature with webbed neck and congenital heart disease syndrome 721073008
- Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome 773625007
- Short tarsus with absence of lower eyelashes syndrome 721075001
- Sitosterolemia with xanthomatosis 65419005
- Sparse hair with short stature and skin anomaly syndrome 719211006
- Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome 773300008
- Steatocystoma multiplex 109433009
- Sterile multifocal osteomyelitis with periostitis and pustulosis 773702002
- Stern Lubinsky Durrie syndrome 723584003
- Taurodontia with absent teeth and sparse hair syndrome 719945007
- Teebi Shaltout syndrome 771265006
- Temple Baraitser syndrome 725140007
- Torticollis, keloids, cryptorchidism, renal dysplasia syndrome 771266007
- Trichodysplasia with amelogenesis imperfecta syndrome 719911000
- Trichoodontoonychial dysplasia 766813000
- Trichothiodystrophy 723551003
- Tuberous sclerosis syndrome 7199000
- Ultraviolet sensitive syndrome 698253007
- Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome 719910004
- Upshaw-Schulman syndrome 373420004
- Van den Bosch syndrome 733110004
- Von Hippel-Lindau syndrome 46659004
- White forelock with malformations syndrome 763619009
- Wiedemann Steiner syndrome 763618001
- Woodhouse Sakati syndrome 816067005
- X-linked intellectual disability with seizure and psoriasis syndrome 719810000
- XTE syndrome 7037003
- Zlotogora Ogur syndrome 716248001
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