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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
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
XTE syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome classic type (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome with periventricular heterotopia (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome, type 3 est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos and osteogenesis imperfecta syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome vascular-like type (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Brittle cornea syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Poikiloderma with neutropenia est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome spondylocheirodysplastic type est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome neurodégénératif sévère avec lipodystrophie est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Epidermolysis bullosa simplex due to BP230 deficiency (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Deafness with onychodystrophy syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial angiolipomatosis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Diffuse palmoplantar keratoderma with painful fissures est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
syndrome de dermatite sévère-allergies multiples-cachexie métabolique est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome d'Ehlers-Danlos par déficit en tenascin-X est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Focal palmoplantar keratoderma with joint keratoses (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Seborrhea-like dermatitis with psoriasiform elements (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive nail dysplasia est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Inherited disorder of keratinization est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Parana hard skin syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
AGel amyloidosis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Inherited cutis laxa est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia with hair-tooth-nail-sweating defect est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Perilipin 1 related familial partial lipodystrophy (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Deficiency of interleukin 36 receptor antagonist est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Pachyonychia congenita syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Multiple pterygium syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Inherited deformity of nail (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
porphyrie cutanée tardive familiale (trouble) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
hypoplasie dermique en aires est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hereditary benign telangiectasia est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Odontotrichomelic syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hereditary striate leuconychia est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome de François est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Marie Unna syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hereditary palmoplantar keratoderma est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Neonatal purpura fulminans (homozygous protein C deficiency) (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive familial woolly hair est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Neurofibromatosis type 2 est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Neurofibromatosis type 1 est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Distichiasis-lymphedema syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Focal facial dermal dysplasia type I est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Focal facial dermal dysplasia type II est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Focal facial dermal dysplasia type IV (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Multiple fibrofolliculomas est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Woodhouse Sakati syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Heredofamilial systemic amyloidosis affecting skin (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Poikilodermal cutaneous amyloid est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
néphropathie amyloïde familiale avec urticaire et surdité est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hereditary clubbing est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial lichen amyloidosis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
lymphœdème héréditaire et ongles jaunes (trouble) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hyperphosphataemic familial tumoural calcinosis est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome d'Adams-Oliver (trouble) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hypodontia and nail dysgenesis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Histiocytosis-lymphadenopathy plus syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Proteus syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial cutaneous collagenoma est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial spinal neurofibromatosis est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
X-linked congenital generalized hypertrichosis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Infantile systemic hyalinosis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Curry-Hall syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Generalized congenital lipodystrophy with myopathy (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hereditary leiomyomatosis and renal cell carcinoma (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Tumoral calcinosis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Chondrodysplasia punctata, X-linked dominant type (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Mohr syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Orofacial-digital syndrome III est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Orofacial-digital syndrome IV est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Isolated generalized anhidrosis with normal sweat glands est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some

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