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774212003: syndroom van microcornea, myopische chorioretinale atrofie en telecanthus (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3728384013 MMCAT syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3728385014 MMCAT (microcornea, myopic chorioretinal atrophy, telecanthus) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3728386010 Microcornea, myopic chorioretinal atrophy, telecanthus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6953381000146119 syndroom van microcornea, myopische chorioretinale atrofie en telecanthus (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6953391000146117 syndroom van microcornea, myopische chorioretinale atrofie en telecanthus nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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