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773575001: Ocular albinism with congenital sensorineural deafness (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3724256010 Ocular albinism with congenital sensorineural deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3724257018 Ocular albinism with congenital sensorineural deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3724258011 Waardenburg syndrome type 2 with ocular albinism en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    905201000172117 albinisme oculaire avec surdité neurosensorielle congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    976711000172110 syndrome de Waardenburg type 2 avec albinisme oculaire fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3408051001000112 Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit 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
    albinisme oculaire avec surdité neurosensorielle congénitale Finding site Structure of auditory system (body structure) false Inferred relationship Some 1
    albinisme oculaire avec surdité neurosensorielle congénitale Occurrence Congenital false Inferred relationship Some 3
    albinisme oculaire avec surdité neurosensorielle congénitale Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
    albinisme oculaire avec surdité neurosensorielle congénitale Is a Ocular albinism false Inferred relationship Some
    albinisme oculaire avec surdité neurosensorielle congénitale Occurrence Congenital false Inferred relationship Some 2
    albinisme oculaire avec surdité neurosensorielle congénitale Finding site Skin structure false Inferred relationship Some 2
    albinisme oculaire avec surdité neurosensorielle congénitale Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    albinisme oculaire avec surdité neurosensorielle congénitale Occurrence Congenital false Inferred relationship Some 1
    albinisme oculaire avec surdité neurosensorielle congénitale Is a Genetic disorder of skin pigmentation (disorder) false Inferred relationship Some
    albinisme oculaire avec surdité neurosensorielle congénitale Is a Congenital sensorineural hearing loss (disorder) false Inferred relationship Some
    albinisme oculaire avec surdité neurosensorielle congénitale Is a Auditory system hereditary disorder false Inferred relationship Some
    albinisme oculaire avec surdité neurosensorielle congénitale Interprets Hearing false Inferred relationship Some 4
    albinisme oculaire avec surdité neurosensorielle congénitale Associated morphology Decreased melanin pigmentation false Inferred relationship Some 3
    albinisme oculaire avec surdité neurosensorielle congénitale Finding site Eye structure false Inferred relationship Some 3
    albinisme oculaire avec surdité neurosensorielle congénitale Is a Congenital oculocutaneous hypopigmentation false Inferred relationship Some
    albinisme oculaire avec surdité neurosensorielle congénitale Associated morphology Hypopigmentation false Inferred relationship Some 2
    albinisme oculaire avec surdité neurosensorielle congénitale Is a An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. false Inferred relationship Some
    albinisme oculaire avec surdité neurosensorielle congénitale Finding site Ear structure false Inferred relationship Some 1
    albinisme oculaire avec surdité neurosensorielle congénitale Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    albinisme oculaire avec surdité neurosensorielle congénitale Is a Decreased hearing false Inferred relationship Some
    albinisme oculaire avec surdité neurosensorielle congénitale Has interpretation Decreased false Inferred relationship Some 4
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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