771303004: Severe neonatal onset encephalopathy with microcephaly (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Neonatal seizures\Severe neonatal onset encephalopathy with microcephaly
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Neonatal seizures\Severe neonatal onset encephalopathy with microcephaly
• \Central nervous system finding\Finding of brain\Encephalopathy\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Neonatal seizures\Severe neonatal onset encephalopathy with microcephaly
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Central nervous system finding\Disorder of the central nervous system\Central nervous system dysfunction in newborn\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Central nervous system finding\Disorder of the central nervous system\Central nervous system dysfunction in newborn\Neonatal seizures\Severe neonatal onset encephalopathy with microcephaly
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Severe neonatal onset encephalopathy with microcephaly
• \Finding of brain\Seizure\Seizure disorder\Neonatal seizures\Severe neonatal onset encephalopathy with microcephaly
• \Finding of brain\Encephalopathy\Seizure disorder\Neonatal seizures\Severe neonatal onset encephalopathy with microcephaly
• \Finding of brain\Encephalopathy\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Disorder of head\Encephalopathy\...
• \Seizure disorder\Neonatal seizures\Severe neonatal onset encephalopathy with microcephaly
• \Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Severe neonatal onset encephalopathy with microcephaly
• \Finding of neonate\Neonatal disorder\Central nervous system dysfunction in newborn\...
• \Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Neonatal seizures\Severe neonatal onset encephalopathy with microcephaly
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Neonatal seizures\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of fetus or newborn\Neonatal disorder\Central nervous system dysfunction in newborn\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of fetus or newborn\Neonatal disorder\Central nervous system dysfunction in newborn\Neonatal seizures\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Neonatal seizures\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Central nervous system dysfunction in newborn\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Central nervous system dysfunction in newborn\Neonatal seizures\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Neonatal seizures\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of head\Encephalopathy\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Developmental disorder\Developmental hereditary disorder\Severe neonatal onset encephalopathy with microcephaly

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3705552011	Severe congenital encephalopathy due to methyl-CpG binding protein 2 mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3705553018	Severe neonatal onset encephalopathy with microcephaly (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3705554012	Severe neonatal onset encephalopathy with microcephaly	en	Synonym	Active	Case insensitive	SNOMED CT core
3705555013	Severe congenital encephalopathy due to MECP2 mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3705556014	Severe congenital encephalopathy due to MECP2 (methyl-CpG binding protein 2) mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3705557017	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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