| syndroom van microcornea, myopische chorioretinale atrofie en telecanthus (aandoening) | | syndroom van microcornea, myopische chorioretinale atrofie en telecanthus | | Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | | MMCAT syndrome
MMCAT (microcornea, myopic chorioretinal atrophy, telecanthus) syndrome
| | 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. |
| | Id | 774212003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q15.8 | | Term | Overige gespecificeerde congenitale misvormingen van oog |
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| SNOMED CT to Orphanet simple map | 369970 |
| SNOMED CT to ICD-10 extended map | | Target | Q15.8 | | Rule | TRUE | | Advice | ALWAYS Q15.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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