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1156823006: Autosomal recessive bilateral optic atrophy (disorder)


Status: current, Defined. 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 Case insensitive SNOMED CT core
4578703010 Autosomal recessive bilateral optic atrophy en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive bilateral optic atrophy Associated morphology Primary atrophy true Inferred relationship Some 1
Autosomal recessive bilateral optic atrophy Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive bilateral optic atrophy Is a Hereditary bilateral optic atrophy true Inferred relationship Some
Autosomal recessive bilateral optic atrophy Finding site Structure of left optic nerve true Inferred relationship Some 1
Autosomal recessive bilateral optic atrophy Associated morphology Primary atrophy true Inferred relationship Some 2
Autosomal recessive bilateral optic atrophy Finding site Structure of right optic nerve true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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