| syndroom van microftalmie, ankyloblefaron en verstandelijke beperking (aandoening) | | syndroom van microftalmie, ankyloblefaron en verstandelijke beperking | | syndroom van microftalmie, ankyloblefaron en verstandelijke handicap
syndroom van microftalmie, ankyloblefaron en mentale retardatie
MCOPS4
syndromale microftalmie type 4
| | Microphthalmia with ankyloblepharon and intellectual disability syndrome | | Syndromic microphthalmia type 4
| | Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. |
| | Id | 717222003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q11.2 | | Term | Microftalmie |
| Target | Q10.3 | | Term | Overige congenitale misvormingen van ooglid |
| Target | F79.9 | | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
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| SNOMED CT to Orphanet simple map | 85275 |
| SNOMED CT to ICD-10 extended map | | Target | Q11.2 | | Rule | TRUE | | Advice | ALWAYS Q11.2 | 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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