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773575001: Ocular albinism with congenital sensorineural deafness (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. 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
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 Inactive 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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
4212381000052110 okulär albinism med kongenital sensorineural dövhet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ocular albinism with congenital sensorineural deafness Finding site Structure of auditory system (body structure) false Inferred relationship Some 1
Ocular albinism with congenital sensorineural deafness Occurrence Congenital true Inferred relationship Some 3
Ocular albinism with congenital sensorineural deafness Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ocular albinism with congenital sensorineural deafness Is a Ocular albinism true Inferred relationship Some
Ocular albinism with congenital sensorineural deafness Occurrence Congenital true Inferred relationship Some 2
Ocular albinism with congenital sensorineural deafness Finding site Skin structure true Inferred relationship Some 2
Ocular albinism with congenital sensorineural deafness Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ocular albinism with congenital sensorineural deafness Occurrence Congenital true Inferred relationship Some 1
Ocular albinism with congenital sensorineural deafness Is a Genetic disorder of skin pigmentation (disorder) false Inferred relationship Some
Ocular albinism with congenital sensorineural deafness Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Ocular albinism with congenital sensorineural deafness Is a Auditory system hereditary disorder false Inferred relationship Some
Ocular albinism with congenital sensorineural deafness Interprets Hearing true Inferred relationship Some 4
Ocular albinism with congenital sensorineural deafness Associated morphology Decreased melanin pigmentation true Inferred relationship Some 3
Ocular albinism with congenital sensorineural deafness Finding site Eye structure true Inferred relationship Some 3
Ocular albinism with congenital sensorineural deafness Is a Congenital oculocutaneous hypopigmentation true Inferred relationship Some
Ocular albinism with congenital sensorineural deafness Associated morphology Hypopigmentation true Inferred relationship Some 2
Ocular albinism with congenital sensorineural deafness Is a Waardenburg syndrome type 2 (disorder) true Inferred relationship Some
Ocular albinism with congenital sensorineural deafness Finding site Ear structure true Inferred relationship Some 1
Ocular albinism with congenital sensorineural deafness Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ocular albinism with congenital sensorineural deafness Is a Decreased hearing (finding) true Inferred relationship Some
Ocular albinism with congenital sensorineural deafness Has interpretation Decreased true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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