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

774212003: Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3728383019 Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3728384013 MMCAT syndrome en Synonym Active Case sensitive SNOMED CT core
3728385014 MMCAT (microcornea, myopic chorioretinal atrophy, telecanthus) syndrome en Synonym Active Case sensitive SNOMED CT core
3728386010 Microcornea, myopic chorioretinal atrophy, telecanthus syndrome en Synonym Active Case insensitive SNOMED CT core
3728387018 A rare genetic developmental defect of the eye disease with characteristics of childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupil and retinal detachment. There is evidence the disease is caused by homozygous mutation in the ADAMTS18 gene on chromosome 16q23. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Finding site Corneal structure true Inferred relationship Some 1
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Associated morphology Congenital smallness true Inferred relationship Some 1
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Finding site Choroidal structure true Inferred relationship Some 3
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Associated morphology Atrophy true Inferred relationship Some 2
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Associated morphology Atrophy true Inferred relationship Some 3
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a Chorioretinal atrophy true Inferred relationship Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Finding site Retinal structure true Inferred relationship Some 2
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a Congenital malformation syndrome true Inferred relationship Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a Microcornea true Inferred relationship Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Occurrence Congenital true Inferred relationship Some 1
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start