autosomaal recessieve hereditaire aandoening	congenitaal cataract	congenitale afwijking van hart	hereditaire aandoening van cardiovasculair systeem	hereditaire aandoening van visueel systeem	hereditaire aandoening van zenuwstelsel	hereditaire ontwikkelingsstoornis	neuralebuisdefect	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
\|	\|	\|	\|	\|	\|	\|	\|	\|

syndroom van cataract, congenitale hartafwijking en neuralebuisdefect (aandoening)
	syndroom van cataract, congenitale hartafwijking en neuralebuisdefect
	syndroom van cataract, congenitale hartziekte en neuralebuisdefect syndroom van cataract, congenitale hartaandoening en neuralebuisdefect
	Cataract, congenital heart disease, neural tube defect syndrome
	A multiple congenital anomaly syndrome with characteristics of sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures and joint limitation are also reported.

Id	726704006
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van hart
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

Associated morphology	troebeling
Finding site	structuur van lens cristallina
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	structuur van tubus neuralis
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	Q12.0
Term	Congenitaal cataract

Target	Q24.9
Term	Congenitale misvorming van hart, niet gespecificeerd

Target	Q07.9
Term	Congenitale misvorming van zenuwstelsel, niet gespecificeerd

SNOMED CT to Orphanet simple map

314993

SNOMED CT to ICD-10 extended map

Target	Q12.0
Rule	TRUE
Advice	ALWAYS Q12.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q24.9
Rule	TRUE
Advice	ALWAYS Q24.9
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q07.9
Rule	TRUE
Advice	ALWAYS Q07.9
Correlation	SNOMED CT source code to target map code correlation not specified