algehele ontwikkelingsachterstand	congenitale microcefalie	genetische aandoening	malformatiesyndroom met betrokkenheid van meerdere systemen	verstandelijke beperking
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'SET domain containing 2, histone lysine methyltransferase'-gerelateerd syndroom van microcefalie, ernstige verstandelijke beperking en multipele congenitale afwijkingen (aandoening)
	SETD2-gerelateerd syndroom van microcefalie, ernstige verstandelijke beperking en multipele congenitale afwijkingen
	SETD2-gerelateerd syndroom van microcefalie, ernstige mentale retardatie en meerdere congenitale misvormingen 'SET domain containing 2, histone lysine methyltransferase'-gerelateerd syndroom van microcefalie, ernstige verstandelijke beperking en multipele congenitale afwijkingen SETD2-gerelateerd syndroom van microcefalie, ernstige verstandelijke handicap en meerdere aangeboren afwijkingen
	SETD2-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome
	SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome SETD2 (SET domain containing 2, histone lysine methyltransferase) related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of microcephaly, severe global developmental delay and intellectual disability, hypotonia, respiratory insufficiency, failure to thrive, and congenital anomalies affecting the skeleton, eyes, and several organ systems. Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead, biparietal narrowing, flat face, hypertelorism, arched eyebrows, short, upslanting palpebral fissures, wide nasal bridge, small, upturned nose, forward facing ears, and micrognathia. Brain imaging shows structural abnormalities in all patients.

Id	1300119004
Status	Primitive

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

Has interpretation	onder referentiebereik
Interprets	hoofdomtrek bij geboorte

Associated morphology	afwijkend klein
Finding site	structuur van hoofd
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified