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719266007: Progressive bifocal chorioretinal atrophy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3315651010 Progressive bifocal chorioretinal atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315652015 Progressive bifocal chorioretinal atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402037011 Progressive bifocal chorioretinal atrophy (PBCRA) is an early onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402038018 Progressive bifocal chorioretinal atrophy (PBCRA) is an early onset chorioretinal dystrophy characterised by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315651010 Progressive bifocal chorioretinal atrophy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315651010 Progressive bifocal chorioretinal atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315652015 Progressive bifocal chorioretinal atrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315652015 Progressive bifocal chorioretinal atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315761012 An early-onset chorioretinal dystrophy with characteristics of large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision and slow disease progression. It has been described in two large families. Transmission is autosomal dominant and the causative gene has been mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402037011 Progressive bifocal chorioretinal atrophy (PBCRA) is an early onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402038018 Progressive bifocal chorioretinal atrophy (PBCRA) is an early onset chorioretinal dystrophy characterised by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
563591000274112 Bifokale chorioretinale progressive Atrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601441000274111 PBCRA - Progressive bifokale chorioretinale Atrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008731000172118 atrophie bifocale choriorétinienne progressive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008731000172118 atrophie bifocale choriorétinienne progressive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
563591000274112 Bifokale chorioretinale progressive Atrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601441000274111 PBCRA - Progressive bifokale chorioretinale Atrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447571001000115 Atrophie, bifokale chorioretinale progressive 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
Progressive bifocal chorioretinal atrophy Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive bifocal chorioretinal atrophy Is a Hereditary retinal dystrophy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive bifocal chorioretinal atrophy Is a Disorder of choroid of eye false Inferred relationship Existential restriction modifier (core metadata concept)
Progressive bifocal chorioretinal atrophy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive bifocal chorioretinal atrophy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Progressive bifocal chorioretinal atrophy Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive bifocal chorioretinal atrophy Finding site Choroidal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Progressive bifocal chorioretinal atrophy Is a Chorioretinal degeneration (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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