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 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)