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1208416000: Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation (disorder)

Status: current, Not 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
4964338018 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
4964339014 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
4964340011 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
4964341010 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
4964342015 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
4964343013 A rare genetic 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
4964344019 A rare genetic 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
4964338018 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
4964339014 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
4964340011 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
4964341010 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
4964342015 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
4964343013 A rare genetic 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
4964344019 A rare genetic 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

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital fibre-type disproportion myopathy due to TPM3 mutation Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibre-type disproportion myopathy due to TPM3 mutation Is a Congenital myopathy with fibre type disproportion true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibre-type disproportion myopathy due to TPM3 mutation Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibre-type disproportion myopathy due to TPM3 mutation Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibre-type disproportion myopathy due to TPM3 mutation Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibre-type disproportion myopathy due to TPM3 mutation Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibre-type disproportion myopathy due to TPM3 mutation Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibre-type disproportion myopathy due to TPM3 mutation Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation Is a True Congenital fibre-type disproportion myopathy due to TPM3 mutation Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation Is a True Congenital fibre-type disproportion myopathy due to TPM3 mutation Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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