1230273004: Megaconial congenital muscular dystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Intellectual ability - finding\Intellectual disability\Megaconial congenital muscular dystrophy
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Megaconial congenital muscular dystrophy

\Muscle finding\Myopathy\...

\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\Musculoskeletal disorder\...

\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\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\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\Megaconial congenital muscular dystrophy
\Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Megaconial congenital muscular dystrophy
\Disease\Myopathy\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\Lipid metabolism disorder\Megaconial congenital muscular dystrophy
\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\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 anomaly\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, Primitive. Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5068648018 Congenital muscular dystrophy with mitochondrial structural abnormalities en Synonym Active Case insensitive SNOMED CT core

5068649014 Megaconial congenital muscular dystrophy en Synonym Active Case insensitive SNOMED CT core

5068650014 Megaconial congenital muscular dystrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5068651013 Congenital megaconial myopathy en Synonym Active Case insensitive SNOMED CT core

5068652018 Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect en Synonym Active Case insensitive SNOMED CT core

5068653011 A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibres. en Definition Active Case sensitive SNOMED CT core

5068654017 A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers. en Definition Active Case sensitive SNOMED CT core

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	Some
Megaconial congenital muscular dystrophy	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Megaconial congenital muscular dystrophy	Is a	Chronic nervous system disorder	true	Inferred relationship	Some
Megaconial congenital muscular dystrophy	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Megaconial congenital muscular dystrophy	Is a	Lipid metabolism disorder	true	Inferred relationship	Some
Megaconial congenital muscular dystrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Megaconial congenital muscular dystrophy	Clinical course	Progressive	true	Inferred relationship	Some	4
Megaconial congenital muscular dystrophy	Occurrence	Congenital	true	Inferred relationship	Some	1
Megaconial congenital muscular dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Megaconial congenital muscular dystrophy	Associated morphology	Mitochondrial enlargement	true	Inferred relationship	Some	1
Megaconial congenital muscular dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Megaconial congenital muscular dystrophy	Occurrence	Congenital	true	Inferred relationship	Some	2
Megaconial congenital muscular dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Megaconial congenital muscular dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Megaconial congenital muscular dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Megaconial congenital muscular dystrophy	Occurrence	Congenital	true	Inferred relationship	Some	3
Megaconial congenital muscular dystrophy	Finding site	Structure of nervous system	true	Inferred relationship	Some	3
Megaconial congenital muscular dystrophy	Is a	Intellectual disability	true	Inferred relationship	Some
Megaconial congenital muscular dystrophy	Is a	Chronic mental disorder	false	Inferred relationship	Some
Megaconial congenital muscular dystrophy	Is a	Global developmental delay	true	Inferred relationship	Some
Megaconial congenital muscular dystrophy	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Megaconial congenital muscular dystrophy	Has interpretation	Impaired	true	Inferred relationship	Some	5
Megaconial congenital muscular dystrophy	Interprets	Intellectual ability	true	Inferred relationship	Some	6
Megaconial congenital muscular dystrophy	Has interpretation	Impaired	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5068648018	Congenital muscular dystrophy with mitochondrial structural abnormalities	en	Synonym	Active	Case insensitive	SNOMED CT core
5068649014	Megaconial congenital muscular dystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
5068650014	Megaconial congenital muscular dystrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5068651013	Congenital megaconial myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
5068652018	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect	en	Synonym	Active	Case insensitive	SNOMED CT core
5068653011	A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibres.	en	Definition	Active	Case sensitive	SNOMED CT core
5068654017	A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.	en	Definition	Active	Case sensitive	SNOMED CT core