Convulsions in the newborn	Developmental hereditary disorder	Hereditary disorder of nervous system	Microcephaly	Neonatal encephalopathy	X-linked recessive hereditary disease
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Severe neonatal onset encephalopathy with microcephaly (disorder)
	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
	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.
	ernstige neonataal optredende encefalopathie met microcefalie
	ernstige congenitale encefalopathie door MECP2-mutatie ernstige aangeboren encefalopathie door mutatie in methyl-CpG-bindend proteïne 2-gen

Id	771303004
Status	Primitive

Finding site	Brain tissue structure
Occurrence	Neonatal
Pathological process	Pathological developmental process

Has interpretation	Below reference range
Interprets	Head circumference

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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