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363185004: Hereditary disorder of the integument (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482325014 Hereditary disorder of the integument en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754981012 Hereditary disorder of the integument (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
482325014 Hereditary disorder of the integument en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
482325014 Hereditary disorder of the integument en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754981012 Hereditary disorder of the integument (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
754981012 Hereditary disorder of the integument (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5229841000241116 affection héréditaire du tégument fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5229841000241116 affection héréditaire du tégument fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

657 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of the integument (disorder) Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of the integument (disorder) Is a Disorder of integument true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of the integument (disorder) Finding site Integumentary system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Progeria Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mandibuloacral dysostosis Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Marfan's syndrome affecting skin Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sclerosing poikiloderma Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ichthyosis of skin Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Albinism Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Wiskott-Aldrich syndrome Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary acrodermatitis enteropathica Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lipid proteinosis Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Papillon-Lefèvre syndrome Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Menkes kinky-hair syndrome Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Epidermolysis bullosa (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Porphyria cutanea tarda (disorder) Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Xanthomatosis (disorder) Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary benign intraepithelial dyskeratosis Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Gorlin syndrome (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary coproporphyria Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary edema of legs Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Farber's lipogranulomatosis Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary angio-oedema Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial chronic mucocutaneous candidiasis - dominant type Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial chronic mucocutaneous candidiasis - recessive type Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fabry's disease Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nail-patella syndrome (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cholestanol storage disease Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sitosterolemia with xanthomatosis Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type V (disorder) Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant mutilating keratoderma Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial Mediterranean fever Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Giacci familial neurogenic acroosteolysis (disorder) Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Drug-induced pseudoporphyria Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial multiple polyposis syndrome Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Premature aging syndrome (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary benign intraepithelial dyskeratosis (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial amyloid polyneuropathy with cutaneous amyloidosis (disorder) Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoporphyria due to PUVA therapy Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Porphyria-like reaction caused by poison and/or environmental toxin Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary neurocutaneous angiomata (disorder) Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial acantholysis Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa, autosomal dominant Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa, autosomal recessive (disorder) Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant epidermolysis bullosa simplex (disorder) Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypopigmentation-immunodeficiency disease Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ocular albinism-lentigines-deafness syndrome Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
albinoïdisme Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculocutaneous albinism Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hemodialysis-associated pseudoporphyria (disorder) Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder) Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Reticulate acropigmentation of Kitamura (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple lentigines syndrome Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pili torti-deafness syndrome Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Steatocystoma multiplex Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial cold urticaria Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pachydermoperiostosis syndrome (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osler haemorrhagic telangiectasia syndrome Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ultraviolet sensitive syndrome (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dyskeratosis congenita Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Follicular atrophoderma and basal cell epitheliomata Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple self-healing epithelioma of Ferguson-Smith (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
B-K mole (nevus) syndrome Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant familial wooly hair Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disseminated superficial porokeratosis (disorder) Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary neurocutaneous angiomata (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Peutz-Jeghers syndrome Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Tuberous sclerosis syndrome Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis syndrome Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital reticular ichthyosiform erythroderma Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder) Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brooke-Spiegler syndrome Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Capillary malformation-arteriovenous malformation syndrome Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis type 1-like syndrome (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acral peeling skin syndrome Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Atrophoderma vermiculatum Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cole disease Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oto-onycho-peroneal syndrome (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial partial lipodystrophy type 2 (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare vascular anomaly or angioma characterised by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin. Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ameloonychohypohidrotic syndrome (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial progressive hyperpigmentation Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with natal teeth Turnpenny type (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Zlotogora Ogur syndrome Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculocerebral hypopigmentation syndrome of Preus type (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare inherited skin cancer syndrome characterised by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalised eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. Is a False Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) Is a True Hereditary disorder of the integument (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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