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


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
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
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
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
545581000274116 MMCAT-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3392051001000119 Mikrokornea-myopische chorioretinale Atrophie-Telekanthus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
545581000274116 MMCAT-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3392051001000119 Mikrokornea-myopische chorioretinale Atrophie-Telekanthus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Finding site Corneal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Finding site Choroidal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a Chorioretinal atrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a Congenital malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a Microcornea true Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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