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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
Cole disease est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
syndrome oto-onycho-péronéal est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial partial lipodystrophy type 2 (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Naxos disease est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
malformation glomuveineuse est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome améloonychohypohidrotique est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial progressive hyperpigmentation (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia with natal teeth Turnpenny type (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Oculocerebral hypopigmentation syndrome of Preus type (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Alopecia and intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hereditary keratoacanthoma (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Punctate palmoplantar keratoderma type 1 (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Hereditary hypotrichosis simplex of scalp (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Gingival fibromatosis and hypertrichosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Melanoma and neural system tumour syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Epidermolysis bullosa simplex with pyloric atresia est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Piebaldism (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Porokeratosis plantaris palmaris et disseminata (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Oro-facial digital syndrome type 9 (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Generalized peeling skin syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Sparse hair with short stature and skin anomaly syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Spinocerebellar ataxia type 34 (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Lelis syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Late-onset junctional epidermolysis bullosa (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Absence of fingerprints with congenital milia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-épilepsie-psoriasis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Vici syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Taurodontia with absent teeth and sparse hair syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Haim Munk syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Aplasia cutis with myopia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
epidermodysplasie verruciforme est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Arterial dissection and lentiginosis syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Cooks syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Cutaneous photosensitivity and lethal colitis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome d'hypertrichose cervicale-neuropathie périphérique est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Amaurosis hypertrichosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
surdité-cécité-hypopigmentation est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Dermo-odonto dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
dermato-ostéolyse type Kirghize est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Blepharocheilodontic syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
dysplasie ectodermique hidrotique type Halal est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome d'hypertrichose-faciès acromégaloïde est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Microphthalmia with linear skin defect syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Rombo syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Joubert syndrome with orofaciodigital defect (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Limb mammary syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Isolated anterior cervical hypertrichosis (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Johnson neuroectodermal syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Oculotrichodysplasia (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Albinism with deafness syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Book syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Bamforth Lazarus syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive popliteal pterygium syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Congenital lethal erythroderma (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some

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