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724175002: Lisch epithelial corneal dystrophy (disorder)


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
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
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
3983801000052119 Lischs hornhinnedystrofi sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lisch epithelial corneal dystrophy (disorder) Is a Hereditary corneal dystrophy true Inferred relationship Some
Lisch epithelial corneal dystrophy (disorder) Is a X-linked hereditary disease false Inferred relationship Some
Lisch epithelial corneal dystrophy (disorder) Is a Corneal epithelium finding false Inferred relationship Some
Lisch epithelial corneal dystrophy (disorder) Is a Dystrophy of anterior cornea (disorder) true Inferred relationship Some
Lisch epithelial corneal dystrophy (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Lisch epithelial corneal dystrophy (disorder) Finding site Structure of corneal epithelium true Inferred relationship Some 1
Lisch epithelial corneal dystrophy (disorder) Is a Corneal epithelial degeneration true Inferred relationship Some
Lisch epithelial corneal dystrophy (disorder) Is a X-linked dominant hereditary disease (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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