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1156823006: Autosomal recessive bilateral optic atrophy (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4578702017 Autosomal recessive bilateral optic atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4578703010 Autosomal recessive bilateral optic atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4578698016 A rare hereditary optic atrophy with characteristics of early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic discs, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5090671000052117 autosomalt recessiv optikusatrofi i båda ögonen 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
Autosomal recessive bilateral optic atrophy (disorder) Associated morphology Primary atrophy true Inferred relationship Some 1
Autosomal recessive bilateral optic atrophy (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive bilateral optic atrophy (disorder) Is a Hereditary bilateral optic atrophy (disorder) true Inferred relationship Some
Autosomal recessive bilateral optic atrophy (disorder) Finding site Structure of left optic nerve (body structure) true Inferred relationship Some 1
Autosomal recessive bilateral optic atrophy (disorder) Associated morphology Primary atrophy true Inferred relationship Some 2
Autosomal recessive bilateral optic atrophy (disorder) Finding site Structure of right optic nerve (body structure) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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