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

SNOMED CT Concept\Clinical finding (finding)\...

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

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

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

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

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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

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

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

4603872018 Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4603873011 A rare genetic neurological disorder with characteristics of pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus and nephrocalcinosis among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5324161000052115 syndrom med polyhydramnios, megalencefali och symtomatisk epilepsi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Is a	Refractory epilepsy (disorder)	true	Inferred relationship	Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Occurrence	Infancy	true	Inferred relationship	Some	2
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Finding site	Cerebrum	true	Inferred relationship	Some	2

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
4603870014	Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4603871013	PMSE (polyhydramnios, megalencephaly, symptomatic epilepsy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4603872018	Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4603873011	A rare genetic neurological disorder with characteristics of pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus and nephrocalcinosis among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5324161000052115	syndrom med polyhydramnios, megalencefali och symtomatisk epilepsi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)