702343002: Early onset myopathy with fatal cardiomyopathy (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 (disorder)\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)

\Muscle finding (finding)\Disorder of muscle\...

\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)

\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)
\Disease\Developmental disorder (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Early onset myopathy with fatal cardiomyopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Early onset myopathy with fatal cardiomyopathy (disorder)	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Early onset myopathy with fatal cardiomyopathy (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Early onset myopathy with fatal cardiomyopathy (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Early onset myopathy with fatal cardiomyopathy (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Early onset myopathy with fatal cardiomyopathy (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Early onset myopathy with fatal cardiomyopathy (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Early onset myopathy with fatal cardiomyopathy (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Early onset myopathy with fatal cardiomyopathy (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Early onset myopathy with fatal cardiomyopathy (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Early onset myopathy with fatal cardiomyopathy (disorder)	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Early onset myopathy with fatal cardiomyopathy (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Early onset myopathy with fatal cardiomyopathy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Early onset myopathy with fatal cardiomyopathy (disorder)	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
2994970012	Salih congenital muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995156018	Early onset myopathy with fatal cardiomyopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995297018	Salih myopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995363010	Early onset myopathy with fatal cardiomyopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2994970012	Salih congenital muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995156018	Early onset myopathy with fatal cardiomyopathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995156018	Early onset myopathy with fatal cardiomyopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995297018	Salih myopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995363010	Early onset myopathy with fatal cardiomyopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995363010	Early onset myopathy with fatal cardiomyopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3439481001000113	Myopathie mit fataler Kardiomyopathie, früh-beginnende Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
916571000172116	EOMFC - early-onset myopathy with fatal cardiomyopathy	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
929501000172113	myopathie précoce avec cardiomyopathie létale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
916571000172116	EOMFC - early-onset myopathy with fatal cardiomyopathy	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
929501000172113	myopathie précoce avec cardiomyopathie létale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3439481001000113	Myopathie mit fataler Kardiomyopathie, früh-beginnende Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module