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733489002: Distal myopathy with posterior leg and anterior hand involvement (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3499544014 Distal myopathy with posterior leg and anterior hand involvement (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499545010 Distal myopathy with posterior leg and anterior hand involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499546011 Distal ABD-filaminopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5403805015 Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403806019 Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterised by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499544014 Distal myopathy with posterior leg and anterior hand involvement (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499545010 Distal myopathy with posterior leg and anterior hand involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499546011 Distal ABD-filaminopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3500014018 A neuromuscular disease with characteristics of progressive symmetric muscle weakness of anterior upper and posterior lower limbs. It has been described in several members of an Australian and an Italian family. The disease usually manifests during the third decade of life with thenar muscle weakness resulting in reduced grip strength. The disease is slowly progressive and generally proceeds with calf muscle weakness appearing during the fourth decade and proximal muscles becoming perceptibly affected in the fifth decade. The disease is due to mutations on the actin-binding domain of the FLNC gene that encodes filamin C, a muscle specific filamin that is also associated with myofibrillar myopathy when mutations affect other parts of the protein. The disease mechanism seems to be linked to an increased actin-binding affinity of filamin C. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403805015 Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403806019 Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterised by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3437161001000119 Distale Myopathie mit Beteiligung der posterioren Bein- und anterioren Handmuskulatur de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
919801000172119 myopathie distale avec atteinte des muscles postérieurs des jambes et des muscles antérieurs des mains fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989521000172114 filaminopathie ABD distale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
919801000172119 myopathie distale avec atteinte des muscles postérieurs des jambes et des muscles antérieurs des mains fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989521000172114 filaminopathie ABD distale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3437161001000119 Distale Myopathie mit Beteiligung der posterioren Bein- und anterioren Handmuskulatur de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Is a Distal muscular dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Occurrence Adulthood true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 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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