771303004: Severe neonatal onset encephalopathy with microcephaly (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Severe neonatal onset encephalopathy with microcephaly
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Severe neonatal onset encephalopathy with microcephaly
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Severe neonatal onset encephalopathy with microcephaly
• \Head finding (finding)\Finding of brain\Disorder of brain\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Severe neonatal onset encephalopathy with microcephaly
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Severe neonatal onset encephalopathy with microcephaly
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Severe neonatal onset encephalopathy with microcephaly
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Severe neonatal onset encephalopathy with microcephaly
• \Central nervous system finding\Finding of brain\Disorder of brain\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Severe neonatal onset encephalopathy with microcephaly
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system dysfunction in newborn\Neonatal encephalopathy\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
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\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 (disorder)\X-linked hereditary disease\Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of foetus and/or newborn\Neonatal disorder\Central nervous system dysfunction in newborn\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system dysfunction in newborn\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Disorder of head (disorder)\Disorder of brain\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental and epileptic encephalopathy (disorder)\Severe neonatal onset encephalopathy with microcephaly
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Severe neonatal onset encephalopathy with microcephaly

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3705553018	Severe neonatal onset encephalopathy with microcephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705554012	Severe neonatal onset encephalopathy with microcephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705555013	Severe congenital encephalopathy due to MECP2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3705556014	Severe congenital encephalopathy due to MECP2 (methyl-CpG binding protein 2) mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5287635011	MECP2-related severe neonatal encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705552011	Severe congenital encephalopathy due to methyl-CpG binding protein 2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3705553018	Severe neonatal onset encephalopathy with microcephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705554012	Severe neonatal onset encephalopathy with microcephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705555013	Severe congenital encephalopathy due to MECP2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3705556014	Severe congenital encephalopathy due to MECP2 (methyl-CpG binding protein 2) mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5287635011	MECP2-related severe neonatal encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432431001000116	Schwere neonatale Enzephalopathie mit Mikrozephalie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
873631000172112	encéphalopathie néonatale sévère avec microcéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
912751000172118	encéphalopathie congénitale sévère due à une mutation du gène MECP2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
873631000172112	encéphalopathie néonatale sévère avec microcéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
912751000172118	encéphalopathie congénitale sévère due à une mutation du gène MECP2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3432431001000116	Schwere neonatale Enzephalopathie mit Mikrozephalie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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