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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
    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
    3724843013 A rare genetic oculocutaneous disorder characterized by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. White forelock, premature graying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3724844019 A rare genetic oculocutaneous disorder characterised by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalised hypopigmentation of the skin. White forelock, premature greying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    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
    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
    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
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Finding site Structure of auditory system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Is a Ocular albinism false Inferred relationship Existential restriction modifier (core metadata concept)
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Is a Genetic disorder of skin pigmentation (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Is a Congenital sensorineural hearing loss (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Is a Auditory system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Interprets Hearing false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Associated morphology Decreased melanin pigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Is a Congenital oculocutaneous hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept)
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Associated morphology Hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Is a Waardenburg syndrome type 2 (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Is a Decreased hearing false Inferred relationship Existential restriction modifier (core metadata concept)
    Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Has interpretation Decreased false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    REPLACED BY association reference set (foundation metadata concept)

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