1230273004: Megaconial congenital muscular dystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Megaconial congenital muscular dystrophy

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...

\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Megaconial congenital muscular dystrophy
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Megaconial congenital muscular dystrophy
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Megaconial congenital muscular dystrophy

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Megaconial congenital muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Megaconial congenital muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Megaconial congenital muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\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\Megaconial congenital muscular dystrophy
\Disease\Disorder of skeletal AND/OR smooth muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Megaconial congenital muscular dystrophy
\Disease\Metabolic disease\Chronic metabolic disorder\Megaconial congenital muscular dystrophy
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Megaconial congenital muscular dystrophy
\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\Megaconial congenital muscular dystrophy
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Megaconial congenital muscular dystrophy
\Disease\Chronic disease\Chronic metabolic disorder\Megaconial congenital muscular dystrophy
\Disease\Chronic disease\Chronic nervous system disorder\Megaconial congenital muscular dystrophy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Megaconial congenital muscular dystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\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\Megaconial congenital muscular dystrophy
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Megaconial congenital muscular dystrophy
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Jun 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5068648018 Congenital muscular dystrophy with mitochondrial structural abnormalities en Synonym Active Entire term case insensitive SNOMED CT core module
5068649014 Megaconial congenital muscular dystrophy en Synonym Active Entire term case insensitive SNOMED CT core module
5068650014 Megaconial congenital muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
5068651013 Congenital megaconial myopathy en Synonym Active Entire term case insensitive SNOMED CT core module
5068652018 Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Megaconial congenital muscular dystrophy	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Existential restriction modifier
Megaconial congenital muscular dystrophy	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Megaconial congenital muscular dystrophy	Is a	Chronic nervous system disorder	true	Inferred relationship	Existential restriction modifier
Megaconial congenital muscular dystrophy	Is a	Chronic metabolic disorder	true	Inferred relationship	Existential restriction modifier
Megaconial congenital muscular dystrophy	Is a	Disorder of lipid metabolism	true	Inferred relationship	Existential restriction modifier
Megaconial congenital muscular dystrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Megaconial congenital muscular dystrophy	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	4
Megaconial congenital muscular dystrophy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Megaconial congenital muscular dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Megaconial congenital muscular dystrophy	Associated morphology	Mitochondrial enlargement	true	Inferred relationship	Existential restriction modifier	1
Megaconial congenital muscular dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Megaconial congenital muscular dystrophy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Megaconial congenital muscular dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2
Megaconial congenital muscular dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	2
Megaconial congenital muscular dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Megaconial congenital muscular dystrophy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Megaconial congenital muscular dystrophy	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	3
Megaconial congenital muscular dystrophy	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Megaconial congenital muscular dystrophy	Is a	Chronic mental disorder	false	Inferred relationship	Existential restriction modifier
Megaconial congenital muscular dystrophy	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Megaconial congenital muscular dystrophy	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Megaconial congenital muscular dystrophy	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Megaconial congenital muscular dystrophy	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	6
Megaconial congenital muscular dystrophy	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5068648018	Congenital muscular dystrophy with mitochondrial structural abnormalities	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5068649014	Megaconial congenital muscular dystrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5068650014	Megaconial congenital muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5068651013	Congenital megaconial myopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5068652018	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module