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770792007: Adult-onset distal myopathy due to valosin containing protein mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3702811017 Adult-onset distal myopathy due to VCP (valosin containing protein) mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3702812012 Adult-onset distal myopathy due to valosin containing protein mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702813019 Adult-onset distal myopathy due to VCP mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3702814013 Adult-onset distal myopathy due to valosin containing protein mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404939010 A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404940012 A rare, genetic distal myopathy disorder characterised by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. 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
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) Occurrence Adulthood true Inferred relationship Some 1
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) Is a Hereditary progressive muscular dystrophy false Inferred relationship Some
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) Is a Distal muscular dystrophy true Inferred relationship Some
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 1
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) Associated morphology Dystrophy true Inferred relationship Some 2
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 2
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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