congenitale ptosis van ooglid	craniosynostose	genetische aandoening	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk	verstandelijke beperking
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syndroom van metopica-richel, ptose en faciale dysmorfie (aandoening)
	syndroom van metopica-richel, ptose en faciale dysmorfie
	syndroom van botrichel ter hoogte van voorhoofdsnaad, ptosis en faciale dysmorfie
	Metopic ridging, ptosis, facial dysmorphism syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability and characteristics of abnormal head shape/metopic ridging and facial dysmorphism which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds and short upturned nose. Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.

Id	1179283004
Status	Primitive

Associated morphology	neerwaartse verplaatsing
Finding site	structuur van palpebra superior
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	premature fusie
Finding site	structuur van sutura cranii
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

SNOMED CT to Orphanet simple map

502430

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