773643006: syndrome d'anomalies congénitales multiples-hypotonie-épilepsie type 2 (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \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\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \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\Generalized epilepsy\Epileptic encephalopathy (disorder)\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\trouble du développement\Developmental hereditary disorder\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome type 2

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
3725344017	Multiple congenital anomalies, hypotonia, seizures syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725345016	MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3725346015	Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
771741000241117	syndrome d'anomalies congénitales multiples-hypotonie-épilepsie type 2 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
964261000172119	syndrome d'anomalies congénitales multiples-hypotonie-épilepsie type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
975191000172110	MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3725347012	A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22.	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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