syndroom van lissencefalie type 3 met familiaire foetale akinesiesequentie (aandoening) | | syndroom van lissencefalie type 3 met familiaire foetale akinesiesequentie | | syndroom van lissencefalie type 3 met familiale foetale akinesie
| | Lissencephaly type 3 familial fetal akinesia sequence syndrome | | This syndrome has characteristics of the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. |
| Id | 718719001 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q04.3 | Term | Overige onderontwikkeling van hersenen |
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SNOMED CT to Orphanet simple map | 86821 |
SNOMED CT to ICD-10 extended map | Target | Q04.3 | Rule | TRUE | Advice | ALWAYS Q04.3 | 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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