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724384008: Helicoid peripapillary chorioretinal degeneration (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
3434964012 Helicoid peripapillary chorioretinal degeneration (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434965013 Helicoid peripapillary chorioretinal degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434966014 Atrophia areata en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434967017 Sveinsson chorioretinal atrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403323019 Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403324013 Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterised by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434964012 Helicoid peripapillary chorioretinal degeneration (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434965013 Helicoid peripapillary chorioretinal degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434966014 Atrophia areata en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434967017 Sveinsson chorioretinal atrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434968010 A rare autosomal dominant inherited chorioretinal degenerative disease presenting at birth or during infancy. The disease has characteristics of progressive bilateral retinal and choroidal atrophy which appears as lesions on the optic nerve and peripheral ocular fundus and leads to loss of central vision. Congenital anterior polar cataracts are sometimes associated with this disease. There is evidence this disease is caused by heterozygous mutation in the TEA domain family member-1 gene (TEAD1) on chromosome 11p15. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403323019 Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403324013 Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterised by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
568011000274115 Helikoid-peripapilläre chorioretinale Degeneration de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
874681000172111 atrophia areata fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
948851000172115 dégénérescence choriorétinienne péripapillaire hélicoïdale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
874681000172111 atrophia areata fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
948851000172115 dégénérescence choriorétinienne péripapillaire hélicoïdale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
568011000274115 Helikoid-peripapilläre chorioretinale Degeneration de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442771001000114 Chorioretinale Degeneration, helikoid-peripapilläre 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
Helicoid peripapillary chorioretinal degeneration (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Helicoid peripapillary chorioretinal degeneration (disorder) Is a Chorioretinal atrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Helicoid peripapillary chorioretinal degeneration (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Helicoid peripapillary chorioretinal degeneration (disorder) Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Helicoid peripapillary chorioretinal degeneration (disorder) Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Helicoid peripapillary chorioretinal degeneration (disorder) Finding site Peripapillary retina true Inferred relationship Existential restriction modifier (core metadata concept) 2
Helicoid peripapillary chorioretinal degeneration (disorder) Finding site Peripapillary choroid true Inferred relationship Existential restriction modifier (core metadata concept) 3
Helicoid peripapillary chorioretinal degeneration (disorder) Is a Peripapillary atrophy (finding) 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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