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724175002: Lisch epithelial corneal dystrophy (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3431521010 Lisch epithelial corneal dystrophy en Synonym Active Case sensitive SNOMED CT core
3431522015 Band-shaped and whorled microcystic dystrophy of corneal epithelium en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Description inactivation indicator reference set

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