FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

715339004: Autosomal dominant keratitis (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302274016 Autosomal dominant keratitis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302275015 Autosomal dominant keratitis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302276019 Hereditary keratitis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302277011 Opacification and vascularization of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302278018 Opacification and vascularisation of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. 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
Autosomal dominant keratitis (disorder) Is a Keratitis true Inferred relationship Some
Autosomal dominant keratitis (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant keratitis (disorder) Is a Congenital disease (disorder) true Inferred relationship Some
Autosomal dominant keratitis (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Autosomal dominant keratitis (disorder) Associated morphology Inflammation false Inferred relationship Some 1
Autosomal dominant keratitis (disorder) Occurrence Congenital true Inferred relationship Some 1
Autosomal dominant keratitis (disorder) Finding site Corneal structure true Inferred relationship Some 1
Autosomal dominant keratitis (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start