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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Refractory epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Refractory epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Refractory epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Refractory epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Refractory epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Finding of brain\Encephalopathy\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disorder of head\Encephalopathy\...
• \Seizure disorder\Epilepsy\Refractory 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\Impaired cognition\Intellectual disability\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Functional finding\Cognitive function 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\Myopathy\...
• \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\Musculoskeletal disorder\...
• \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\Refractory 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\Glycoprotein metabolism disorder\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\Neurological 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\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Refractory epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal 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\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Myopathy\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\Encephalopathy\Seizure disorder\Epilepsy\Refractory epilepsy\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\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\Congenital anomaly\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\Glycoprotein metabolism disorder\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\Chronic disease\Chronic metabolic disorder\Congenital muscular dystrophy with intellectual disability and severe epilepsy
• \Disease\Chronic disease\Chronic nervous system 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 anomaly\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, Primitive. 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	Active	Case insensitive	SNOMED CT core
3755712017	Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3755714016	Congenital disorder of glycosylation type 1u	en	Synonym	Active	Case insensitive	SNOMED CT core
3755716019	Carbohydrate deficient glycoprotein syndrome type 1u	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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