1208417009: Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation (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\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation

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

\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation

\Disease\Genetic disease\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 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 fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
\Disease\Congenital disease (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 fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 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 fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation

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

Descriptions:

Id Description Lang Type Status Case? Module

4964346017 Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4964347014 Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4964348016 Autosomal recessive congenital fibre-type disproportion myopathy due to tropomyosin 3 mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4964349012 Autosomal recessive congenital fibre-type disproportion myopathy due to TPM3 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4964350012 Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4964351011 A rare autosomal recessive congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is TPM3 (1q21.3). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4964352016 A rare autosomal recessive congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is TPM3 (1q21.3). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13779641000172114 autosomaal recessieve congenitale myopathie met vezeltypedisproportie door mutatie van tropomyosine 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13779651000172111 autosomaal recessieve CFTDM door TPM3-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13779661000172113 autosomaal recessieve congenitale 'fiber-type disproportion myopathy' door mutatie van TPM3 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation	Is a	Congenital fiber-type disproportion myopathy due to TPM3 mutation	true	Inferred relationship	Some
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4964346017	Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4964347014	Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964348016	Autosomal recessive congenital fibre-type disproportion myopathy due to tropomyosin 3 mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964349012	Autosomal recessive congenital fibre-type disproportion myopathy due to TPM3 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4964350012	Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964351011	A rare autosomal recessive congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is TPM3 (1q21.3).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964352016	A rare autosomal recessive congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is TPM3 (1q21.3).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13779641000172114	autosomaal recessieve congenitale myopathie met vezeltypedisproportie door mutatie van tropomyosine 3	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13779651000172111	autosomaal recessieve CFTDM door TPM3-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13779661000172113	autosomaal recessieve congenitale 'fiber-type disproportion myopathy' door mutatie van TPM3	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)