702349003: actinemyopathie (aandoening)

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

\Finding of movement (finding)\Loss of motor function\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)
\Finding of movement (finding)\Movement disorder\Nemaline myopathy\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)

\General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)

\Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)
\Muscle finding\Disorder of muscle\Congenital myopathy (disorder)\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)
\Muscle finding\Disorder of muscle\Hereditary myopathy (disorder)\Actin accumulation myopathy (disorder)
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)

\Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Actin accumulation myopathy (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)

\Disease\Genetic disease\Nemaline myopathy\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Actin accumulation myopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Actin accumulation myopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Actin accumulation myopathy (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Actin accumulation myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Actin accumulation myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)
\Disease\Disorder of muscle\Congenital myopathy (disorder)\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Actin accumulation myopathy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)
\Disease\Movement disorder\Nemaline myopathy\Nemaline myopathy, early onset type\Actin accumulation myopathy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Actin accumulation myopathy (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
Actin accumulation myopathy (disorder)	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Actin accumulation myopathy (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Actin accumulation myopathy (disorder)	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some	1
Actin accumulation myopathy (disorder)	Is a	Nemaline myopathy, early onset type	true	Inferred relationship	Some
Actin accumulation myopathy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Actin accumulation myopathy (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Actin accumulation myopathy (disorder)	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Actin accumulation myopathy (disorder)	Is a	Hereditary myopathy (disorder)	true	Inferred relationship	Some
Actin accumulation myopathy (disorder)	Interprets	Movement	true	Inferred relationship	Some	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
2995200014	Actin accumulation myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995370010	Nemaline myopathy 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995468019	Actin accumulation myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995863016	Congenital myopathy with excess thin filaments	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6327061000146114	nemalinemyopathie type 3	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6327081000146118	actinemyopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6327091000146116	congenitale myopathie met overmaat aan dunne filamenten	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6688081000146115	actinemyopathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)