congenitaal kortedarmsyndroom	congenitale afwezigheid van milt	congenitale hernia diaphragmatica	genetische aandoening	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
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syndroom van hernia diaphragmatica, 'short bowel' en asplenie (aandoening)
	syndroom van hernia diaphragmatica, 'short bowel' en asplenie
	syndroom van middenrifbreuk, korte darm en afwezigheid van milt
	Diaphragmatic hernia, short bowel, asplenia syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares and small mandible. Atresia of the duodenum has also been reported.

Id	1217373008
Status	Primitive

Associated morphology	abnormaal korte groei
Finding site	geheel intestinum tenue
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	breukpoort
Finding site	structuur van diafragma
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	herniatie
Finding site	structuur van abdominopelviene holte en/of inhoud
Occurrence	congenitaal

Associated morphology	afwezigheid
Finding site	structuur van milt
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

SNOMED CT to Orphanet simple map

527468

SNOMED CT to ICD-10 extended map

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified