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774152007: Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3728155011 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728156012 Retinal dystrophy with inner nuclear layer and ganglion cell anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728157015 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728158013 A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3728159017 A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fibre layer with loss of optic nerve fibres manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3728155011 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728156012 Retinal dystrophy with inner nuclear layer and ganglion cell anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728157015 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728158013 A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3728159017 A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fibre layer with loss of optic nerve fibres manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3395251001000119 Netzhautdystrophie mit Dysfunktion der inneren Retina und Ganglienzellanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1002371000172117 dystrophie rétinienne avec anomalies de la couche nucléaire interne et des cellules ganglionnaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1002371000172117 dystrophie rétinienne avec anomalies de la couche nucléaire interne et des cellules ganglionnaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395251001000119 Netzhautdystrophie mit Dysfunktion der inneren Retina und Ganglienzellanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Is a Hereditary retinal dystrophy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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