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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...
• \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
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disorder of head (disorder)\Disorder of brain (disorder)\...
• \Seizure disorder\Epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Muscle finding\Disorder of muscle\...
• \Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disorder of skeletal muscle\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\Seizure\Seizure disorder\Epilepsy\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\Hereditary disease\Hereditary metabolic 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\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Genetic disease\Hereditary disease\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\Hereditary disease\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\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of body system\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\Disorder of body system\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\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of body system\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\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Metabolic disease\Hereditary metabolic 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\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Metabolic disease\Chronic metabolic disorder\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Congenital disease (disorder)\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 (disorder)\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 (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Chronic disease\Chronic metabolic disorder\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Developmental disorder\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\Developmental disorder\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
10594091000172118	dystrophie musculaire congénitale avec retard mental et épilepsie sévère	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10594101000172114	dystrophie musculaire congénitale avec handicap intellectuel et épilepsie sévère	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10594111000172112	dystrophie musculaire congénitale avec déficience intellectuelle et épilepsie sévère	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4041811000172113	congenitale spierdystrofie met mentale retardatie en ernstige epilepsie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4041821000172115	congenitale spierdystrofie met verstandelijke handicap en ernstige epilepsie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4041831000172117	congenitale spierdystrofie met verstandelijke beperking en ernstige epilepsie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

Reference Sets

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