1167371007: Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Refractory epilepsy\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Refractory epilepsy\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Refractory epilepsy\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Refractory epilepsy\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Refractory epilepsy\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Refractory epilepsy\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Refractory epilepsy\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Refractory epilepsy\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Refractory epilepsy\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4603870014 Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4603871013 PMSE (polyhydramnios, megalencephaly, symptomatic epilepsy) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

4603872018 Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Is a	Refractory epilepsy	true	Inferred relationship	Existential restriction modifier
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier	2
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	2
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4603870014	Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4603871013	PMSE (polyhydramnios, megalencephaly, symptomatic epilepsy) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4603872018	Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module