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


Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
3728156012 Retinal dystrophy with inner nuclear layer and ganglion cell anomalies en Synonym Active Case insensitive SNOMED CT core
3728157015 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder) en Fully specified name Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


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 true Inferred relationship Some
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Finding site Retinal structure true Inferred relationship Some 1
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Associated morphology Dystrophy true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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