| syndroom van colobomateuze microftalmie, obesitas, hypogenitalisme en verstandelijke beperking (aandoening) | | syndroom van colobomateuze microftalmie, obesitas, hypogenitalisme en verstandelijke beperking | | syndroom van colobomateuze microftalmie, obesitas, hypogenitalisme en verstandelijke handicap
syndroom van colobomateuze microftalmie, obesitas, hypogenitalisme en mentale retardatie
| | Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | | A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay. |
| | Id | 776204008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 363741 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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