aandoening gerelateerd aan 'methyl-cytosine phosphate guanine binding protein 2'	epileptische encefalopathie met ontwikkelingsstoornis	hereditaire aandoening van zenuwstelsel	hereditaire ontwikkelingsstoornis	microcefalie	neonatale encefalopathie	X-gebonden hereditaire recessieve aandoening
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ernstige neonataal optredende encefalopathie met microcefalie (aandoening)
	ernstige neonataal optredende encefalopathie met microcefalie
	ernstige aangeboren encefalopathie door mutatie in methyl-CpG-bindend proteïne 2-gen ernstige congenitale encefalopathie door MECP2-mutatie
	Severe neonatal onset encephalopathy with microcephaly
	Severe congenital encephalopathy due to MECP2 (methyl-CpG binding protein 2) mutation Severe congenital encephalopathy due to MECP2 mutation Severe congenital encephalopathy due to methyl-CpG binding protein 2 mutation MECP2-related severe neonatal encephalopathy
	A rare monogenic disease with characteristics of neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. Caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene.

Id	771303004
Status	Primitive

Finding site	structuur van encephalon
Occurrence	neonataal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	onder referentiebereik
Interprets	hoofdomtrek

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q02
Term	Microcefalie

SNOMED CT to Orphanet simple map

209370

SNOMED CT to ICD-10 extended map

Target	Q02
Rule	TRUE
Advice	ALWAYS Q02 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified