| syndroom van megalencefalie, polymicrogyrie, postaxiale polydactylie en hydrocefalie (aandoening) | | syndroom van megalencefalie, polymicrogyrie, postaxiale polydactylie en hydrocefalie | | syndroom van macrencefalie, polymicrogyrie, postaxiale polydactylie en hydrocephalus
MPPH-syndroom
| | Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome | | MPPH syndrome
MPPH (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome
| | A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common. |
| | Id | 722036008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q04.5 | | Term | Megalencefalie |
| Target | Q04.3 | | Term | Overige onderontwikkeling van hersenen |
| Target | Q03.9 | | Term | Congenitale hydrocefalus, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 83473 |
| SNOMED CT to ICD-10 extended map | | Target | Q04.8 | | Rule | TRUE | | Advice | ALWAYS Q04.8 | 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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