1208418004: Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 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 tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 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 tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation

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

\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 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 tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 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 tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation

\Disease\Genetic disease\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 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 tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 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 tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 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 tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 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 tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 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 tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 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 tropomyosin 3 mutation\Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 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

4964353014 Autosomal dominant congenital fibre-type disproportion myopathy due to tropomyosin 3 mutation en Synonym Active Entire term case insensitive SNOMED CT core module

4964354015 Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation en Synonym Active Entire term case insensitive SNOMED CT core module

4964355019 Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation en Synonym Active Only initial character case insensitive SNOMED CT core module

4964356018 Autosomal dominant congenital fibre-type disproportion myopathy due to TPM3 mutation en Synonym Active Only initial character case insensitive SNOMED CT core module

4964357010 Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation (disorder) en Fully specified name Active Entire term 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 tropomyosin 3 mutation	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation	Is a	Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation	true	Inferred relationship	Existential restriction modifier
Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 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
4964353014	Autosomal dominant congenital fibre-type disproportion myopathy due to tropomyosin 3 mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4964354015	Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4964355019	Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4964356018	Autosomal dominant congenital fibre-type disproportion myopathy due to TPM3 mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4964357010	Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module