782772000: Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\...
• \Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie réfractaire\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \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\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \affection de la tête\Disorder of brain (disorder)\...
• \trouble convulsif\Epilepsy\épilepsie réfractaire\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \constatation à propos d'un muscle\affection musculaire\...
• \Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Epilepsy\épilepsie réfractaire\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection dégénérative\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \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\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection musculaire\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection musculaire\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\trouble métabolique\Chronic metabolic disorder\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\trouble mental\Chronic mental disorder\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\maladie chronique\Chronic mental disorder\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\maladie chronique\Chronic metabolic disorder\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\trouble du développement\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\trouble du développement\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755710013	Congenital muscular dystrophy with intellectual disability and severe epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755712017	Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755714016	Congenital disorder of glycosylation type 1u	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755716019	Carbohydrate deficient glycoprotein syndrome type 1u	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755715015	A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

US English

Back to Start