FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

724384008: Helicoid peripapillary chorioretinal degeneration (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3434965013 Helicoid peripapillary chorioretinal degeneration en Synonym Active Case insensitive SNOMED CT core
3434966014 Atrophia areata en Synonym Active Case insensitive SNOMED CT core
3434967017 Sveinsson chorioretinal atrophy en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Helicoid peripapillary chorioretinal degeneration Is a Peripapillary atrophy true Inferred relationship Some
Helicoid peripapillary chorioretinal degeneration Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Helicoid peripapillary chorioretinal degeneration Is a Chorioretinal atrophy true Inferred relationship Some
Helicoid peripapillary chorioretinal degeneration Is a Hereditary disorder of the visual system true Inferred relationship Some
Helicoid peripapillary chorioretinal degeneration Associated morphology Atrophy true Inferred relationship Some 2
Helicoid peripapillary chorioretinal degeneration Associated morphology Atrophy true Inferred relationship Some 3
Helicoid peripapillary chorioretinal degeneration Finding site Peripapillary retina true Inferred relationship Some 2
Helicoid peripapillary chorioretinal degeneration Finding site Peripapillary choroid true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start