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 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets