aandoening van os sacrum	congenitale afwijking van bekken	congenitale afwijking van ruggenmerg	congenitale dysplasie	holoprosencefalie
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syndroom van holoprosencefalie met caudale dysgenesie (aandoening)
	syndroom van holoprosencefalie met caudale dysgenesie
	Holoprosencephaly with caudal dysgenesis syndrome
	A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).

Id	771146007
Status	Primitive

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

Associated morphology	dysplasie
Finding site	structuur van regio van sacrale wervelkolom
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	structuur van hoofd
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	Q04.2
Term	Holoprosencefalie

SNOMED CT to Orphanet simple map

2165

SNOMED CT to ICD-10 extended map

Target	Q04.2
Rule	TRUE
Advice	ALWAYS Q04.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified