Hereditary disorder of the integument   363185004

SNOMED CT code


SNOMED code363185004
nameHereditary disorder of the integument
statusactive
date introduced2002-01-31
fully specified name(s)Hereditary disorder of the integument (disorder)
synonymsHereditary disorder of the integument
attributes - group1
Finding siteIntegumentary system structure   48075008
parents
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
  • Adams-Oliver syndrome   34748004
  • ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome   720464003
  • Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome   722281001
  • AGel amyloidosis   783160006
  • AKT2-related familial partial lipodystrophy   1197746001
  • 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
  • Autosomal dominant familial wooly hair   403794008
  • Autosomal dominant hypohidrotic ectodermal dysplasia syndrome   7731005
  • Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome   1187115008
  • Autosomal recessive familial wooly hair   403795009
  • Autosomal recessive hypohidrotic ectodermal dysplasia syndrome   27025001
  • Autosomal recessive nail dysplasia   782878007
  • Autosomal recessive popliteal pterygium syndrome   722376008
  • Autosomal semi-dominant severe lipodystrophic laminopathy   1197747005
  • B-K mole (nevus) syndrome   254819008
  • Bamforth Lazarus syndrome   722375007
  • Birt Hogg Dubé syndrome   1263460007
  • 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
  • Carney complex   733491005
  • Cerebellar ataxia and ectodermal dysplasia   715371006
  • Cervical hypertrichosis and peripheral neuropathy syndrome   720852000
  • Cholestanol storage disease   63246000
  • Chondrodysplasia punctata, X-linked dominant type   398958000
  • CIDEC-related familial partial lipodystrophy   1197749008
  • 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 insensitivity to pain, hyperhidrosis, absence of cutaneous sensory innervation   1279834007
  • Congenital isolated onychodysplasia   1254893000
  • Congenital lethal erythroderma   722391005
  • Contracture with ectodermal dysplasia and orofacial cleft syndrome   720746006
  • Cooks syndrome   720747002
  • Crouzon syndrome with acanthosis nigricans   702361006
  • Curry-Hall syndrome   277807007
  • Cutaneous photosensitivity and lethal colitis syndrome   720820000
  • Deaf blind hypopigmentation syndrome Yemenite type   721084001
  • Deafness with onychodystrophy syndrome   773735007
  • Deafness, enamel hypoplasia, nail defect syndrome   721085000
  • Deafness, vitiligo, achalasia syndrome   733069009
  • 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, anorexia, cachexia, eye and skin anomalies syndrome   782949007
  • Facial dysmorphism, immunodeficiency, livedo, short stature syndrome   771515001
  • Familial acantholysis   77759009
  • Familial amyloid nephropathy with urticaria AND deafness   15123008
  • Familial angiolipomatosis   774066000
  • Familial chilblain lupus erythematosus   1220590003
  • Familial cold urticaria   238687000
  • Familial cutaneous collagenoma   239139000
  • Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome   782823001
  • Familial dyskeratotic comedones   254219004
  • Familial isolated trichomegaly   764523004
  • Familial lichen amyloidosis   237870002
  • Familial malignant melanoma of skin   726019003
  • Familial multiple discoid fibroma   1222705009
  • 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
  • Familial progressive hyper and hypopigmentation   763368004
  • 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
  • Follicular hamartoma with alopecia and cystic fibrosis syndrome   716088000
  • Francois syndrome   254150007
  • Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001
  • GAPO syndrome   721843003
  • Gastrocutaneous syndrome   782946000
  • Generalized basaloid follicular hamartoma syndrome   766928004
  • Generalized congenital lipodystrophy with myopathy   1156814008
  • Gingival fibromatosis and hypertrichosis syndrome   716008002
  • Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome   1222658006
  • Glomuvenous malformation   715644000
  • Gorlin syndrome   69408002
  • Granulomatous inflammatory arthritis, dermatitis and uveitis, familial   699861000
  • Hair defect with photosensitivity and intellectual disability syndrome   721007005
  • HELIX syndrome   1217380005
  • Hennekam Beemer syndrome   722453009
  • Hereditary acrodermatitis enteropathica   37702000
  • Hereditary anetoderma   733467001
  • Hereditary benign intraepithelial dyskeratosis   400014002
  • Hereditary clubbing   239055005
  • Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome   733469003
  • Hereditary distal onycholysis   1254945005
  • Hereditary hypermelanosis   403804008
  • Hereditary hypotrichosis simplex   723362004
  • Hereditary hypotrichosis with recurrent skin vesicles syndrome   724350009
  • Hereditary keratoacanthoma   716774008
  • Hereditary leiomyomatosis and renal cell carcinoma   1162799008
  • Hereditary lymphedema and yellow nails   400211001
  • 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
  • Histiocytosis-lymphadenopathy plus syndrome   711159002
  • Hypertrichosis and acromegaloid facial appearance syndrome   721837000  removed: 2022-06-30
  • Hypertrichosis cubiti   771181009
  • Hypodontia and nail dysgenesis   239021007
  • 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
  • Infantile systemic hyalinosis   238867003
  • Inherited cutaneous hyperpigmentation   239079007
  • 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
  • Isolated generalized anhidrosis with normal sweat glands   1187178004
  • Johnson neuroectodermal syndrome   721584005
  • Joubert syndrome with orofaciodigital defect   721873007
  • Juvenile hyaline fibromatosis   238861002
  • Kohlschutter's syndrome   109478007
  • LAMA5-related multisystemic syndrome   1217370006
  • Legius syndrome   703541007
  • Limb mammary syndrome   721972001
  • LIPE-related familial partial lipodystrophy   1197751007
  • 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
  • Microcephaly, congenital cataract, psoriasiform dermatitis syndrome   1172683008
  • Microphthalmia with linear skin defect syndrome   721879006
  • Mohr syndrome   1779005
  • 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 due to homozygous protein C deficiency   402851000
  • Neuroectodermal melanolysosomal disease   724091002
  • Neurofibromatosis type 1   92824003
  • Neurofibromatosis type 6   1208340009
  • Non-androgenic hypertrichosis with genetic disease   733203002
  • Noonan syndrome-like disorder with loose anagen hair   723444009
  • Oculocerebral hypopigmentation syndrome of Preus type   716174001
  • Oculocutaneous albinism   63844009
  • Oculoosteocutaneous syndrome   722061006
  • Oculotrichodysplasia   722062004
  • Odonto-tricho-ungual-digito-palmar syndrome   722063009
  • Odontotrichomelic syndrome   239028001
  • Oliver McFarlane syndrome   719944006
  • 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
  • Orofacial-digital syndrome III   239030004
  • Orofacial-digital syndrome IV   239031000
  • Osteopenia, intellectual disability, sparse hair syndrome   732954002
  • Osteoporosis and oculocutaneous hypopigmentation syndrome   722113001
  • Oto-onycho-peroneal syndrome   441944007
  • Pachydermoperiostosis syndrome   88220006
  • Parana hard skin syndrome   783013001
  • Perilipin 1 related familial partial lipodystrophy   783616005
  • Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease   765325002
  • Perniola Krajewska Carnevale syndrome   716191002
  • Peutz-Jeghers syndrome   54411001
  • Phylloid hypomelanosis   403807001
  • Piebald trait with neurologic defects syndrome   773984007
  • Piebaldism   718122005
  • 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
  • Poikilodermal cutaneous amyloid   237872005
  • PPARG-related familial partial lipodystrophy   1197745002
  • Premature aging syndrome   399959003
  • Primary hypergonadotropic hypogonadism and partial alopecia syndrome   719275009
  • Progeria syndrome   190590004  removed: 2003-07-31
  • Proteus syndrome   23150001
  • Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa   1220599002
  • 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
  • Reticulate acropigmentation of Kitamura   239133004
  • 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  removed: 2021-01-31
  • Severe achondroplasia, developmental delay, acanthosis nigricans syndrome   874931001
  • Severe dermatitis, multiple allergies, metabolic wasting syndrome   774211005
  • Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome   1172629005
  • 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  removed: 2021-01-31
  • Split-foot malformation, mesoaxial polydactyly syndrome   1172635005
  • 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
  • TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome   1222708006
  • Torticollis, keloids, cryptorchidism, renal dysplasia syndrome   771266007
  • Trichodysplasia with amelogenesis imperfecta syndrome   719911000
  • Trichodysplasia xeroderma syndrome   766812005
  • Trichoodontoonychial dysplasia   766813000
  • Trichothiodystrophy   723551003
  • Tuberous sclerosis syndrome   7199000
  • Tumoral calcinosis   61778004
  • Ultraviolet sensitive syndrome   698253007
  • Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome   719910004
  • Upshaw-Schulman syndrome   373420004
  • Van den Bosch syndrome   733110004
  • Vici syndrome   719824001
  • Von Hippel-Lindau syndrome   46659004
  • Waardenburg Shah syndrome   715952000
  • Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome   1186725001
  • White forelock with malformations syndrome   763619009
  • Wiedemann Steiner syndrome   763618001
  • Woodhouse Sakati syndrome   816067005
  • X-linked congenital generalized hypertrichosis   1010628009
  • X-linked intellectual disability with seizure and psoriasis syndrome   719810000
  • X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome   1172692006
  • X-linked reticulate pigmentary disorder with systemic manifestation syndrome   717224002
  • Xeroderma pigmentosum   44600005
  • XTE syndrome   7037003
  • Zlotogora Ogur syndrome   716248001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Hereditary disorder of the integument   363185004

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