771303004: Severe neonatal onset encephalopathy with microcephaly (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Convulsions in the newborn\Severe neonatal onset encephalopathy with microcephaly
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Convulsions in the newborn\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 of brain\Seizure disorder\Convulsions in the newborn\Severe neonatal onset encephalopathy with microcephaly
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\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\Convulsions in the newborn\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\Convulsions in the newborn\Severe neonatal onset encephalopathy with microcephaly
\Finding of brain\Disorder of brain\Seizure disorder\Convulsions in the newborn\Severe neonatal onset encephalopathy with microcephaly
\Finding of brain\Disorder of brain\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly

\Disorder of head\Disorder of brain\...

\Seizure disorder\Convulsions in the newborn\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

\Convulsions in the newborn\Severe neonatal onset encephalopathy with microcephaly

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Convulsions in the newborn\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\Convulsions in the newborn\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\Disorder of nervous system\Hereditary disorder of nervous system\Severe neonatal onset encephalopathy with microcephaly
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Convulsions in the newborn\Severe neonatal onset encephalopathy with microcephaly
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
\Disease\Disorder of body system\Disorder of nervous system\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\Disorder of nervous system\Disorder of the central nervous system\Central nervous system dysfunction in newborn\Convulsions in the newborn\Severe neonatal onset encephalopathy with microcephaly
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Convulsions in the newborn\Severe neonatal onset encephalopathy with microcephaly
\Disease\Disorder of head\Disorder of brain\Neonatal encephalopathy\Severe neonatal onset encephalopathy with microcephaly
\Disease\Developmental disorder\Developmental hereditary disorder\Severe neonatal onset encephalopathy with microcephaly

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3705552011 Severe congenital encephalopathy due to methyl-CpG binding protein 2 mutation en Synonym Active Only initial character case insensitive SNOMED CT core module
3705553018 Severe neonatal onset encephalopathy with microcephaly (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3705554012 Severe neonatal onset encephalopathy with microcephaly en Synonym Active Entire term case insensitive SNOMED CT core module
3705555013 Severe congenital encephalopathy due to MECP2 mutation en Synonym Active Only initial character case insensitive SNOMED CT core module
3705556014 Severe congenital encephalopathy due to MECP2 (methyl-CpG binding protein 2) mutation en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe neonatal onset encephalopathy with microcephaly	Is a	Convulsions in the newborn	true	Inferred relationship	Existential restriction modifier
Severe neonatal onset encephalopathy with microcephaly	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Severe neonatal onset encephalopathy with microcephaly	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Severe neonatal onset encephalopathy with microcephaly	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Severe neonatal onset encephalopathy with microcephaly	Is a	Neonatal encephalopathy	true	Inferred relationship	Existential restriction modifier
Severe neonatal onset encephalopathy with microcephaly	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Severe neonatal onset encephalopathy with microcephaly	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	1
Severe neonatal onset encephalopathy with microcephaly	Finding site	Brain tissue structure	true	Inferred relationship	Existential restriction modifier	2
Severe neonatal onset encephalopathy with microcephaly	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	1
Severe neonatal onset encephalopathy with microcephaly	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	1
Severe neonatal onset encephalopathy with microcephaly	Occurrence	Neonatal	true	Inferred relationship	Existential restriction modifier	2
Severe neonatal onset encephalopathy with microcephaly	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Severe neonatal onset encephalopathy with microcephaly	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	1
Severe neonatal onset encephalopathy with microcephaly	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Severe neonatal onset encephalopathy with microcephaly	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
Severe neonatal onset encephalopathy with microcephaly	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	1
Severe neonatal onset encephalopathy with microcephaly	Is a	Microcephaly	true	Inferred relationship	Existential restriction modifier
Severe neonatal onset encephalopathy with microcephaly	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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