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770667002: Occult macular dystrophy (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3701926016 Occult macular dystrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3701927013 Occult macular dystrophy en Synonym Active Case insensitive SNOMED CT core
3701928015 OCMD - occult macular dystrophy en Synonym Active Case sensitive SNOMED CT core
3701929011 OMD - occult macular dystrophy en Synonym Active Case sensitive SNOMED CT core
3701931019 A rare genetic retinal dystrophy disease with characteristics of bilateral progressive decline of visual acuity due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. There is evidence the disease is caused by heterozygous mutation in the RP1L1 gene on chromosome 8p23. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Occult macular dystrophy Clinical course Progressive true Inferred relationship Some 2
Occult macular dystrophy Associated morphology Dystrophy true Inferred relationship Some 1
Occult macular dystrophy Is a Chronic disease true Inferred relationship Some
Occult macular dystrophy Finding site Macula lutea structure true Inferred relationship Some 1
Occult macular dystrophy Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Occult macular dystrophy Is a Hereditary macular dystrophy true Inferred relationship Some

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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