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723450004: Pigmented paravenous retinochoroidal atrophy (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424668016 Pigmented paravenous retinochoroidal atrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3424669012 Pigmented paravenous retinochoroidal atrophy en Synonym Active Case insensitive SNOMED CT core
3424670013 Pigmented paravenous chorioretinal atrophy en Synonym Active Case insensitive SNOMED CT core
3424671012 PPRCA - pigmented paravenous retinochoroidal atrophy en Synonym Active Case sensitive SNOMED CT core
4361471013 A rare commonly bilateral and symmetric retinal disease with characteristics of non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of bone-corpuscle pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. There is evidence this disease is caused by heterozygous mutation in the CRB1 gene on chromosome 1q31. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pigmented paravenous retinochoroidal atrophy Is a Congenital disease true Inferred relationship Some
Pigmented paravenous retinochoroidal atrophy Is a Chorioretinal atrophy true Inferred relationship Some
Pigmented paravenous retinochoroidal atrophy Is a Hereditary disorder of the visual system true Inferred relationship Some
Pigmented paravenous retinochoroidal atrophy Associated morphology Atrophy true Inferred relationship Some 2
Pigmented paravenous retinochoroidal atrophy Occurrence Congenital true Inferred relationship Some 2
Pigmented paravenous retinochoroidal atrophy Associated morphology Atrophy true Inferred relationship Some 3
Pigmented paravenous retinochoroidal atrophy Occurrence Congenital true Inferred relationship Some 3
Pigmented paravenous retinochoroidal atrophy Finding site Retinal structure true Inferred relationship Some 2
Pigmented paravenous retinochoroidal atrophy Finding site Choroidal structure true Inferred relationship Some 3

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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