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770558006: Late-onset distal myopathy Markesbery Griggs type (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3701261015 ZASP (Z-band alternatively spliced PDZ motif protein) related myofibrillar myopathy en Synonym Active Case sensitive SNOMED CT core
3701262010 Late-onset distal myopathy Markesbery Griggs type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3701263017 ZASP related myofibrillar myopathy en Synonym Active Case sensitive SNOMED CT core
3701264011 Late-onset distal myopathy Markesbery Griggs type en Synonym Active Initial character case insensitive SNOMED CT core
3701265012 A rare genetic non-dystrophic myofibrillar myopathy disorder with characteristics of late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later of the proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. Caused by heterozygous mutation in the ZASP gene on chromosome 10. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Late-onset distal myopathy Markesbery Griggs type Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Late-onset distal myopathy Markesbery Griggs type Is a Myofibrillar myopathy true Inferred relationship Some
Late-onset distal myopathy Markesbery Griggs type Finding site Skeletal muscle structure true Inferred relationship Some 1
Late-onset distal myopathy Markesbery Griggs type Occurrence Adulthood true Inferred relationship Some 1
Late-onset distal myopathy Markesbery Griggs type Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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