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782675008: Distal myopathy with anterior tibial onset (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3755110015 Distal myopathy with anterior tibial onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755111016 Distal anterior compartment myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755112011 Distal myopathy with anterior tibial onset (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755113018 A rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. There is evidence the disease is caused by homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. Patients become wheelchair dependent. 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
Distal myopathy with anterior tibial onset Associated morphology Dystrophy true Inferred relationship Some 1
Distal myopathy with anterior tibial onset Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Distal myopathy with anterior tibial onset Finding site Skeletal muscle structure true Inferred relationship Some 1
Distal myopathy with anterior tibial onset Is a Distal muscular dystrophy true Inferred relationship Some
Distal myopathy with anterior tibial onset Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Distal myopathy with anterior tibial onset Clinical course Progressive (qualifier value) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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