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719429003: syndroom van ectodermale dysplasie met acanthosis nigricans (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3316315017 Lelis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316317013 Ectodermal dysplasia with acanthosis nigricans syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316318015 Ectodermal dysplasia with acanthosis nigricans syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6216061000146112 syndroom van Lelis nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6216081000146116 Lelis-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6674391000146118 syndroom van ectodermale dysplasie met acanthosis nigricans nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6674401000146115 syndroom van ectodermale dysplasie met acanthosis nigricans (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6674411000146118 ectodermale dysplasie-acanthosis nigricans-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3316316016 The association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. So far, only eight cases have been described in the literature. Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit and hypodontia. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lelis syndrome Is a Ectodermal dysplasia true Inferred relationship Some
Lelis syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Lelis syndrome Is a Hereditary disorder of the integument false Inferred relationship Some
Lelis syndrome Is a Acanthosis nigricans (disorder) true Inferred relationship Some
Lelis syndrome Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Lelis syndrome Occurrence Congenital true Inferred relationship Some 3
Lelis syndrome Occurrence Congenital false Inferred relationship Some 4
Lelis syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 3
Lelis syndrome Finding site Ectoderm structure true Inferred relationship Some 3
Lelis syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Lelis syndrome Finding site Skin structure false Inferred relationship Some 4
Lelis syndrome Has interpretation Abnormal true Inferred relationship Some 1
Lelis syndrome Interprets Keratinization true Inferred relationship Some 1
Lelis syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Lelis syndrome Finding site Skin structure true Inferred relationship Some 2
Lelis syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Lelis syndrome Occurrence Congenital true Inferred relationship Some 2
Lelis syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Lelis syndrome Associated morphology Dysplasia true Inferred relationship Some 3
Lelis syndrome Is a Keratosis false Inferred relationship Some
Lelis syndrome Is a Inherited disorder of keratinisation true Inferred relationship Some
Lelis syndrome Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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