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1208413008: Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle 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
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
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
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
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 fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) Is a Congenital myopathy with fibre type disproportion true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) 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 fibre-type disproportion myopathy due to ACTA1 mutation Is a True Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a True Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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