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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie réfractaire\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie réfractaire\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\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)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Epilepsy\épilepsie réfractaire\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Disease\affection de la tête\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\affection de la tête\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\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Disease\Congenital disease\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\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
• \Disease\trouble du développement\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

Expanded Value Set

This concept is not in any reference sets

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