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1208418004: autosomaal dominante congenitale myopathie met vezeltypedisproportie door mutatie van tropomyosine 3 (aandoening)


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
4964353014 Autosomal dominant 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
4964354015 Autosomal dominant 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
4964355019 Autosomal dominant 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
4964356018 Autosomal dominant 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
4964357010 Autosomal dominant 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
13591091000146113 autosomaal dominante congenitale myopathie met vezeltypedisproportie door mutatie van tropomyosine 3 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13591101000146118 autosomaal dominante CFTDM door TPM3-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13591111000146116 autosomaal dominante congenitale myopathie met vezeltypedisproportie door mutatie van tropomyosine 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13591121000146114 autosomaal dominante congenitale 'fiber-type disproportion myopathy' door mutatie van TPM3 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4964358017 A rare autosomal dominant 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
4964359013 A rare autosomal dominant 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


0 descendants.

Expanded Value Set


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

This concept is not in any reference sets

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