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724384008: dégénérescence choriorétinienne péripapillaire hélicoïdale (trouble)


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
760521000241117 dégénérescence choriorétinienne péripapillaire hélicoïdale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
874681000172111 atrophia areata fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
948851000172115 dégénérescence choriorétinienne péripapillaire hélicoïdale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Helicoid peripapillary chorioretinal degeneration (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Helicoid peripapillary chorioretinal degeneration (disorder) est un(e) (attribut) Chorioretinal atrophy true Inferred relationship Some
Helicoid peripapillary chorioretinal degeneration (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Helicoid peripapillary chorioretinal degeneration (disorder) morphologie associée (attribut) atrophie (anomalie morphologique) true Inferred relationship Some 2
Helicoid peripapillary chorioretinal degeneration (disorder) morphologie associée (attribut) atrophie (anomalie morphologique) true Inferred relationship Some 3
Helicoid peripapillary chorioretinal degeneration (disorder) localisation d'une constatation (attribut) Peripapillary retina true Inferred relationship Some 2
Helicoid peripapillary chorioretinal degeneration (disorder) localisation d'une constatation (attribut) Peripapillary choroid true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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