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783555001: Hypotrichosis and deafness syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3759333015 Hypotrichosis and deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759334014 Hypotrichosis and deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759335010 A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3759333015 Hypotrichosis and deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759334014 Hypotrichosis and deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759335010 A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3450111001000117 Hypotrichose-Schwerhörigkeit-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6306601000241113 syndrome d'hypotrichose et de surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6306601000241113 syndrome d'hypotrichose et de surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450111001000117 Hypotrichose-Schwerhörigkeit-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypotrichosis and deafness syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis and deafness syndrome (disorder) Is a Hypotrichosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis and deafness syndrome (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypotrichosis and deafness syndrome (disorder) Is a Developmental and/or congenital abnormality of nail false Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis and deafness syndrome (disorder) Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypotrichosis and deafness syndrome (disorder) Is a Erythrokeratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis and deafness syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis and deafness syndrome (disorder) Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis and deafness syndrome (disorder) Is a Keratosis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis and deafness syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis and deafness syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypotrichosis and deafness syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypotrichosis and deafness syndrome (disorder) Interprets Keratinisation true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypotrichosis and deafness syndrome (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypotrichosis and deafness syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypotrichosis and deafness syndrome (disorder) Associated morphology Growth alteration true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypotrichosis and deafness syndrome (disorder) Is a Dystrophia unguium true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis and deafness syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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