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718579008: X-linked endothelial dystrophy of cornea (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3312828017 X-linked endothelial dystrophy of cornea (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3312829013 X-linked endothelial dystrophy of cornea en Synonym Active Case sensitive SNOMED CT core
3312830015 X-linked endothelial corneal dystrophy en Synonym Active Case sensitive SNOMED CT core
3312831016 A rare subtype of posterior corneal dystrophy with characteristics of congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Prevalence of this rare corneal dystrophy is unknown. Males are affected more severely than females. The condition is progressive in males and non-progressive in females. Has been mapped to the long arm of the X-chromosome (Xq25) but the causative gene has not been identified. Transmission is X-linked recessive. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked endothelial corneal dystrophy Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked endothelial corneal dystrophy Is a Congenital disease true Inferred relationship Some
X-linked endothelial corneal dystrophy Is a Hereditary corneal dystrophy true Inferred relationship Some
X-linked endothelial corneal dystrophy Is a X-linked hereditary disease false Inferred relationship Some
X-linked endothelial corneal dystrophy Is a Corneal endothelial dystrophy true Inferred relationship Some
X-linked endothelial corneal dystrophy Associated morphology Dystrophy true Inferred relationship Some 1
X-linked endothelial corneal dystrophy Occurrence Congenital true Inferred relationship Some 1
X-linked endothelial corneal dystrophy Finding site Structure of corneal endothelium true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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