| syndroom van preaxiale polydactylie, coloboom en verstandelijke beperking (aandoening) | | syndroom van preaxiale polydactylie, coloboom en verstandelijke beperking | | syndroom van preaxiale polydactylie, coloboom en mentale retardatie
syndroom van Pfeiffer-Mayer
syndroom van preaxiale polydactylie, coloboom en verstandelijke handicap
| | Preaxial polydactyly, colobomata, intellectual disability syndrome | | Pfeiffer Mayer syndrome
| | A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987. |
| | Id | 733088002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.2 | | Term | Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten |
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| SNOMED CT to Orphanet simple map | 2921 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.2 | | Rule | TRUE | | Advice | ALWAYS Q87.2 | 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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