autosomaal recessieve hereditaire aandoening	congenitale kleine extremiteit	hereditaire aandoening van zenuwstelsel	hereditaire ontwikkelingsstoornis	lissencefalie	polymalformatief syndroom met defect van aangezicht en extremiteit als voornaamst kenmerk
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syndroom van microlissencefalie en micromelie (aandoening)
	syndroom van microlissencefalie en micromelie
	syndroom van Basel-Vanagaite-Sirota
	Microlissencephaly micromelia syndrome
	Basel Vanagaite Sirota syndrome
	A syndrome of abnormal cortical development with characteristics of severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.

Id	723405001
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van encephalon
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	afwijkend klein
Finding site	gehele extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	structuur van aangezicht
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q04.3
Term	Overige onderontwikkeling van hersenen

SNOMED CT to Orphanet simple map

50810

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