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718579008: dystrophie cornéenne endothéliale liée à l'X (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3312829013 X-linked endothelial dystrophy of cornea en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3312830015 X-linked endothelial corneal dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
752401000241119 dystrophie cornéenne endothéliale liée à l'X (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
914951000172110 dystrophie cornéenne endothéliale liée à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
965601000172118 XECD - X-linked endothelial corneal dystrophy fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked endothelial dystrophy of cornea (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
X-linked endothelial dystrophy of cornea (disorder) est un(e) (attribut) Congenital disease true Inferred relationship Some
X-linked endothelial dystrophy of cornea (disorder) est un(e) (attribut) Hereditary corneal dystrophy true Inferred relationship Some
X-linked endothelial dystrophy of cornea (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
X-linked endothelial dystrophy of cornea (disorder) est un(e) (attribut) Corneal endothelial dystrophy (disorder) true Inferred relationship Some
X-linked endothelial dystrophy of cornea (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
X-linked endothelial dystrophy of cornea (disorder) survenue (attribut) congénital true Inferred relationship Some 1
X-linked endothelial dystrophy of cornea (disorder) localisation d'une constatation (attribut) Structure of corneal endothelium true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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