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717975006: Autosomal dominant optic atrophy and peripheral neuropathy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3310750018 Autosomal dominant optic atrophy and peripheral neuropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310751019 Autosomal dominant optic atrophy and peripheral neuropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310752014 A form of autosomal dominant optic atrophy with characteristics of progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. 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
Autosomal dominant optic atrophy and peripheral neuropathy syndrome (disorder) Is a Dominant hereditary optic atrophy true Inferred relationship Some
Autosomal dominant optic atrophy and peripheral neuropathy syndrome (disorder) Is a Peripheral nerve disease true Inferred relationship Some
Autosomal dominant optic atrophy and peripheral neuropathy syndrome (disorder) Finding site Peripheral nerve structure true Inferred relationship Some 1
Autosomal dominant optic atrophy and peripheral neuropathy syndrome (disorder) Associated morphology Primary atrophy true Inferred relationship Some 2
Autosomal dominant optic atrophy and peripheral neuropathy syndrome (disorder) Finding site Optic nerve 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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