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721200000: Early-onset X-linked optic atrophy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3324593011 Early-onset X-linked optic atrophy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324594017 Early-onset X-linked optic atrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324595016 Non-Leber type optic atrophy with early-onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324611017 Optic atrophy type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324612012 A rare form of hereditary optic atrophy seen in only 4 families to date. With onset in early childhood the disease has characteristics of progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. 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
Early-onset X-linked optic atrophy (disorder) Is a Hereditary optic atrophy false Inferred relationship Some
Early-onset X-linked optic atrophy (disorder) Is a X-linked hereditary disease false Inferred relationship Some
Early-onset X-linked optic atrophy (disorder) Associated morphology Primary atrophy true Inferred relationship Some 2
Early-onset X-linked optic atrophy (disorder) Occurrence Congenital true Inferred relationship Some 2
Early-onset X-linked optic atrophy (disorder) Finding site Optic nerve structure true Inferred relationship Some 2
Early-onset X-linked optic atrophy (disorder) Is a Congenital atrophy of optic nerve (disorder) true Inferred relationship Some
Early-onset X-linked optic atrophy (disorder) Is a X-linked recessive hereditary disease false Inferred relationship Some
Early-onset X-linked optic atrophy (disorder) Is a X-linked optic atrophy true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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