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723450004: Pigmented paravenous retinochoroidal atrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3424669012 Pigmented paravenous retinochoroidal atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424670013 Pigmented paravenous chorioretinal atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424671012 PPRCA - pigmented paravenous retinochoroidal atrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403070013 Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403071012 Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterised by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424668016 Pigmented paravenous retinochoroidal atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424669012 Pigmented paravenous retinochoroidal atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424670013 Pigmented paravenous chorioretinal atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424671012 PPRCA - pigmented paravenous retinochoroidal atrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424672017 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403070013 Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403071012 Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterised by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
602541000274119 PPRCA - Pigmentierte paravenöse retinochoroidale Atrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3422931001000111 Pigmentierte paravenöse retinochoroidale Atrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
875491000172112 PPRCA - pigmented paravenous retinochoroidal atrophy fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
922191000172116 atrophie rétino-choroïdienne paraveineuse pigmentée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
875491000172112 PPRCA - pigmented paravenous retinochoroidal atrophy fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
922191000172116 atrophie rétino-choroïdienne paraveineuse pigmentée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602541000274119 PPRCA - Pigmentierte paravenöse retinochoroidale Atrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3422931001000111 Pigmentierte paravenöse retinochoroidale Atrophie 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
Pigmented paravenous retinochoroidal atrophy (disorder) Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Pigmented paravenous retinochoroidal atrophy (disorder) Is a Chorioretinal atrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Pigmented paravenous retinochoroidal atrophy (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pigmented paravenous retinochoroidal atrophy (disorder) Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pigmented paravenous retinochoroidal atrophy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pigmented paravenous retinochoroidal atrophy (disorder) Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pigmented paravenous retinochoroidal atrophy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pigmented paravenous retinochoroidal atrophy (disorder) Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pigmented paravenous retinochoroidal atrophy (disorder) Finding site Choroidal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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