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

SNOMED CT Concept\Clinical finding (finding)\...

\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 (disorder)\Congenital muscular dystrophy with intellectual disability and severe epilepsy
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Refractory epilepsy (disorder)\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\Refractory epilepsy (disorder)\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\Refractory epilepsy (disorder)\Congenital muscular dystrophy with intellectual disability and severe epilepsy
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Refractory epilepsy (disorder)\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\Refractory epilepsy (disorder)\Congenital muscular dystrophy with intellectual disability and severe epilepsy

\Chronic brain syndrome\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\Refractory epilepsy (disorder)\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 disorder by system\Hereditary 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\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\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\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\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\Refractory epilepsy (disorder)\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\Refractory epilepsy (disorder)\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\Chronic metabolic disorder\Congenital muscular dystrophy with intellectual disability and severe epilepsy
\Disease\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\Mental disorder\Developmental mental disorder\Intellectual disability\Congenital muscular dystrophy with intellectual disability and severe epilepsy
\Disease\Mental disorder\Chronic mental 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\Chronic disease\Chronic mental disorder\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\Developmental mental 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

4346861000052111 kongenital muskeldystrofi med intellektuell funktionsnedsättning och svår epilepsi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Is a	Intellectual disability	true	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Is a	Refractory epilepsy (disorder)	true	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Is a	Chronic mental disorder	true	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Finding site	Cerebrum	true	Inferred relationship	Some	2
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
4346861000052111	kongenital muskeldystrofi med intellektuell funktionsnedsättning och svår epilepsi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)