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1300116006: Oculocutaneous albinism type 8 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5298152011 Oculocutaneous albinism type 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5298153018 Oculocutaneous albinism type 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5298154012 OCA8 - oculocutaneous albinism type 8 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5298155013 A type of oculocutaneous albinism with characteristics of mild hypopigmentation of the skin, hair, and eyes with moderate reduction of visual acuity and nystagmus. The ocular phenotype includes moderate foveal hypoplasia, iris transillumination and hypopigmentation of the retina. 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
Oculocutaneous albinism type 8 (disorder) Is a Lesion of retina true Inferred relationship Some
Oculocutaneous albinism type 8 (disorder) Is a Congenital anomaly of retina true Inferred relationship Some
Oculocutaneous albinism type 8 (disorder) Is a Oculocutaneous albinism true Inferred relationship Some
Oculocutaneous albinism type 8 (disorder) Occurrence Congenital true Inferred relationship Some 1
Oculocutaneous albinism type 8 (disorder) Finding site Skin structure true Inferred relationship Some 1
Oculocutaneous albinism type 8 (disorder) Associated morphology Decreased melanin pigmentation true Inferred relationship Some 1
Oculocutaneous albinism type 8 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculocutaneous albinism type 8 (disorder) Occurrence Congenital true Inferred relationship Some 2
Oculocutaneous albinism type 8 (disorder) Finding site Retinal structure true Inferred relationship Some 2
Oculocutaneous albinism type 8 (disorder) Associated morphology Decreased melanin pigmentation true Inferred relationship Some 2
Oculocutaneous albinism type 8 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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