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1208413008: congenitale myopathie met vezeltypedisproportie door mutatie van 'actin alpha 1' (aandoening)


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
4964317012 Congenital fibre-type disproportion myopathy due to ACTA1 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4964318019 Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964319010 Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964320016 Congenital fibre-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964321017 Congenital fiber-type disproportion myopathy due to ACTA1 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
13591651000146112 CFTDM door ACTA1-mutatie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13591661000146110 congenitale myopathie met vezeltypedisproportie door mutatie van 'actin alpha 1' (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13591671000146116 congenitale myopathie met vezeltypedisproportie door mutatie van 'actin alpha 1' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13591681000146119 congenitale 'fiber-type disproportion myopathy' door mutatie van ACTA1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4964322012 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 ACTA1 (1q42.13). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4964323019 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 ACTA1 (1q42.13). 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 ACTA1 mutation Is a Autosomal hereditary disorder true Inferred relationship Some
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a Congenital myopathy with fibre type disproportion true Inferred relationship Some
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a Developmental hereditary disorder true Inferred relationship Some
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Occurrence Congenital true Inferred relationship Some 1
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Finding site Skeletal muscle structure true Inferred relationship Some 1
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a Hereditary myopathy (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a True Congenital fibre-type disproportion myopathy due to ACTA1 mutation Inferred relationship Some
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a True Congenital fibre-type disproportion myopathy due to ACTA1 mutation Inferred relationship Some

This concept is not in any reference sets

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