773643006: Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\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
• \Disorder of head (disorder)\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
• \Disorder of head (disorder)\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
• \Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Genetic disease\Hereditary disease\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\Hereditary disease\Developmental hereditary disorder\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\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\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Congenital disease (disorder)\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 (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental and epileptic encephalopathy\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Developmental disorder\Developmental hereditary disorder\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome type 2
• \Disease\Developmental disorder\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
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
964261000172119	syndrome d'anomalies congénitales multiples-hypotonie-épilepsie type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian 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)	Belgian module (core metadata concept)
965031000172119	multipele congenitale anomalieën, hypotonie, epileptische aanvallen-syndroom type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1012441000172119	MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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