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763718009: Finnish upper limb onset distal myopathy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643470012 Finnish upper limb onset distal myopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643471011 Finnish upper limb onset distal myopathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643472016 Distal myopathy type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643473014 A rare genetic distal myopathy with characteristics of slowly progressive distal to proximal limb muscle weakness and atrophy and early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. 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
Finnish upper limb onset distal myopathy Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Finnish upper limb onset distal myopathy Is a Distal muscular dystrophy true Inferred relationship Some
Finnish upper limb onset distal myopathy Associated morphology Developmental anomaly false Inferred relationship Some 2
Finnish upper limb onset distal myopathy Occurrence Congenital false Inferred relationship Some 2
Finnish upper limb onset distal myopathy Finding site Skeletal muscle structure true Inferred relationship Some 2
Finnish upper limb onset distal myopathy Associated morphology Dystrophy true Inferred relationship Some 2
Finnish upper limb onset distal myopathy Associated morphology Dystrophy true Inferred relationship Some 1
Finnish upper limb onset distal myopathy Occurrence Congenital false Inferred relationship Some 1
Finnish upper limb onset distal myopathy Finding site Skeletal muscle structure true Inferred relationship Some 1
Finnish upper limb onset distal myopathy Occurrence Adulthood true Inferred relationship Some 1
Finnish upper limb onset distal myopathy Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Finnish upper limb onset distal myopathy Clinical course Progressive (qualifier value) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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