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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
5404159010 Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic 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
5404160017 Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterised by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic 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
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
5404159010 Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic 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
5404160017 Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterised by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic 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
3449851001000116 Distale Myopathie der obere Extremitäten mit Beginn im Erwachsenenalter, Finnischer Typ de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
886321000172119 myopathie distale avec atteinte initiale des membres supérieurs type finlandais fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1005801000172110 MPD3 - myopathie distale type 3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
886321000172119 myopathie distale avec atteinte initiale des membres supérieurs type finlandais fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1005801000172110 MPD3 - myopathie distale type 3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449851001000116 Distale Myopathie der obere Extremitäten mit Beginn im Erwachsenenalter, Finnischer Typ 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
Finnish upper limb onset distal myopathy (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Finnish upper limb onset distal myopathy (disorder) Is a Distal muscular dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Finnish upper limb onset distal myopathy (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Finnish upper limb onset distal myopathy (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Finnish upper limb onset distal myopathy (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Finnish upper limb onset distal myopathy (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Finnish upper limb onset distal myopathy (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Finnish upper limb onset distal myopathy (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Finnish upper limb onset distal myopathy (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Finnish upper limb onset distal myopathy (disorder) Occurrence Adulthood true Inferred relationship Existential restriction modifier (core metadata concept) 1
Finnish upper limb onset distal myopathy (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Finnish upper limb onset distal myopathy (disorder) 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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