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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

654 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of the integument est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of the integument est un(e) (attribut) troubles tégumentaires true Inferred relationship Some
Hereditary disorder of the integument localisation d'une constatation (attribut) Structure of integumentary system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Isolated generalized anhidrosis with normal sweat glands est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Juvenile hyaline fibromatosis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
AKT2-related familial partial lipodystrophy est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
CIDEC-related familial partial lipodystrophy est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
LIPE-related familial partial lipodystrophy est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
LAMA5-related multisystemic syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial chilblain lupus erythematosus (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial multiple discoid fibroma est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
ichtyose congénitale est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Familial chronic mucocutaneous candidiasis - dominant type est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Familial chronic mucocutaneous candidiasis - recessive type est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Fabry's disease est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Nail-patella syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Cholestanol storage disease est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Sitosterolemia with xanthomatosis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
acro-céphalo-syndactylie de type V est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant mutilating keratoderma est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Albinism est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Progeria syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Familial Mediterranean fever est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Giacci familial neurogenic acroosteolysis (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
syndrome de Wiskott-Aldrich (trouble) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
acrodermatite entéropathique héréditaire (trouble) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Lipid proteinosis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome de Papillon-Lefèvre (trouble) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
xeroderma pigmentosum est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
pseudoporphyrie médicamenteuse est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Familial multiple polyposis syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Premature aging syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial amyloid polyneuropathy with cutaneous amyloidosis (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Pseudoporphyria due to PUVA therapy est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Porphyria-like reaction to poison and/or environmental toxin est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Hereditary neurocutaneous angiomata (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
cutis laxa est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Menkes kinky-hair syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial acantholysis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Epidermolysis bullosa est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Porphyria cutanea tarda est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Xanthomatosis est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Cutis laxa, autosomal dominant est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Cutis laxa, autosomal recessive (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Gorlin syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hereditary coproporphyria est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Hypopigmentation-immunodeficiency disease est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ocular albinism-lentigines-deafness syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
albinoïdisme est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Oculocutaneous albinism est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Hereditary edema of legs est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Hemodialysis-associated pseudoporphyria (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Klein-Waardenberg's syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Neurocutaneous syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Reticulate acropigmentation of Kitamura est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Multiple lentigines syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Pili torti-deafness syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Farber's lipogranulomatosis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hereditary angioedema est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
stéatocystomes multiples est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial cold urticaria est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Pachydermoperiostosis syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Mandibuloacral dysostosis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
maladie de Rendu-Osler est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Marfan's syndrome affecting skin est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ultraviolet sensitive syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Dyskeratosis congenita est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Follicular atrophoderma and basal cell epitheliomata est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Multiple self-healing epithelioma of Ferguson-Smith est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
b-K mole syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Schinzel-Giedion syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Rothmund-Thomson syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Crouzon syndrome with acanthosis nigricans (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Kohlschutter's syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant familial woolly hair est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
porokératose superficielle disséminée est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
maladie de von Hippel-Lindau (trouble) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hereditary neurocutaneous angiomata (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
lentiginose périorificielle avec polypose viscérale est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Tuberous sclerosis syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Neurofibromatosis syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Congenital reticular ichthyosiform erythroderma (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Brooke-Spiegler syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Capillary malformation-arteriovenous malformation syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Legius syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Hereditary sclerosing poikiloderma est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Acral peeling skin syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
atrophodermie vermiculée (trouble) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Cole disease est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some

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