aandoening van skelet	congenitale afwijking van bewegingsapparaat	congenitale afwijking van hart	genetische aandoening	lichaamsbouw passend bij marfansyndroom	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
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syndroom van marfanoïde habitus, faciale dysmorfie, skeletafwijking en hartdefect (aandoening)
	syndroom van marfanoïde habitus, faciale dysmorfie, skeletafwijking en hartdefect
	Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
	A rare multiple congenital anomalies/dysmorphic syndrome without intellectual disability with characteristics of congenital heart disease, skeletal and joint abnormalities (including pectus excavatum, scoliosis and hyper-extensibility or contractures in finger joints), variable dysmorphic facial features (notably long face with narrow maxilla and pointed chin) and failure to thrive. Additional clinical features may include gastrointestinal problems, lipodystrophy‐like features, renal hypoplasia, hearing impairment, distinct ocular abnormalities, thin/velvety skin, risk for pneumothorax and genital abnormalities in male.

Id	1303865002
Status	Primitive

Interprets

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

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

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