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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
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
3935141000052115 progressiv bifokal korioretinal atrofi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Progressive bifocal chorioretinal atrophy (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Progressive bifocal chorioretinal atrophy (disorder) Is a Hereditary retinal dystrophy true Inferred relationship Some
Progressive bifocal chorioretinal atrophy (disorder) Is a Disorder of choroid of eye false Inferred relationship Some
Progressive bifocal chorioretinal atrophy (disorder) Associated morphology Dystrophy true Inferred relationship Some 2
Progressive bifocal chorioretinal atrophy (disorder) Associated morphology Dystrophy true Inferred relationship Some 3
Progressive bifocal chorioretinal atrophy (disorder) Finding site Retinal structure true Inferred relationship Some 2
Progressive bifocal chorioretinal atrophy (disorder) Finding site Choroidal structure true Inferred relationship Some 3
Progressive bifocal chorioretinal atrophy (disorder) Is a Chorioretinal degeneration true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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