1208415001: Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation

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

\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation

\Disease\Genetic disease\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
\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\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Mar 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4964329015 Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation en Synonym Active Only initial character case insensitive SNOMED CT core module

4964330013 Autosomal dominant congenital fibre-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation en Synonym Active Entire term case insensitive SNOMED CT core module

4964331012 Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4964332017 Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation en Synonym Active Entire term case insensitive SNOMED CT core module

4964333010 Autosomal dominant congenital fiber-type disproportion myopathy due to ACTA1 mutation en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation	Is a	Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation	true	Inferred relationship	Existential restriction modifier
Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

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
4964329015	Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4964330013	Autosomal dominant congenital fibre-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4964331012	Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4964332017	Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4964333010	Autosomal dominant congenital fiber-type disproportion myopathy due to ACTA1 mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module