| syndroom van microcefalie, hersendefect, spasticiteit en hypernatriëmie (aandoening) | | syndroom van microcefalie, hersendefect, spasticiteit en hypernatriëmie | | syndroom van Franek-Bocker-Kahlen
Franek-Bocker-Kahlen-syndroom
| | Microcephalus, brain defect, spasticity, hypernatremia syndrome | | Franek Bocker Kahlen syndrome
| | A rare congenital genetic syndrome with a central nervous system malformation as a major feature. The disorder has characteristics of microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings is reported and there have been no further descriptions in the literature since 1986. |
| | Id | 770655004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G98 | | Term | Overige aandoeningen van zenuwstelsel, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 2523 |
| SNOMED CT to ICD-10 extended map | | Target | G98 | | Rule | TRUE | | Advice | ALWAYS G98 | 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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