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724175002: dystrophie cornéenne de Lisch (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
1013921000172110 dystrophie cornéenne de Lisch fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3431520011 Lisch epithelial corneal dystrophy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431521010 Lisch epithelial corneal dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431522015 Band-shaped and whorled microcystic dystrophy of corneal epithelium en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
760341000241119 dystrophie cornéenne de Lisch (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
925081000172112 LECD - Lisch epithelial corneal dystrophy fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3431523013 A very rare form of superficial corneal dystrophy with characteristics of feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. Exact prevalence of this form of corneal dystrophy is not known but very few cases have been reported to date. Lesions generally develop in childhood. Epithelial opacities are slowly progressive and painless blurred vision sometimes occurs after 60 years of age. The exact cause is unknown but appears to be genetic. The gene related to Lisch epithelial corneal dystrophy has been mapped to the short arm of the X chromosome (Xp22.3). 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
dystrophie cornéenne de Lisch est un(e) (attribut) Corneal epithelial degeneration true Inferred relationship Some
dystrophie cornéenne de Lisch est un(e) (attribut) X-linked dominant hereditary disease (disorder) true Inferred relationship Some
dystrophie cornéenne de Lisch est un(e) (attribut) Hereditary corneal dystrophy true Inferred relationship Some
dystrophie cornéenne de Lisch est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
dystrophie cornéenne de Lisch est un(e) (attribut) Corneal epithelium finding false Inferred relationship Some
dystrophie cornéenne de Lisch est un(e) (attribut) Dystrophy of anterior cornea (disorder) true Inferred relationship Some
dystrophie cornéenne de Lisch morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
dystrophie cornéenne de Lisch localisation d'une constatation (attribut) Structure of corneal epithelium true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

US English

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