726107008: Distal myopathy Welander type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\...

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

\Muscle finding (finding)\Disorder of muscle\...

\Degenerative disorder of muscle (disorder)\Muscular dystrophy\...

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

\Disorder of skeletal muscle\Muscular dystrophy\...

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\...

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

\Chronic disease of musculoskeletal system\Muscular dystrophy\...

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

\Disorder of skeletal muscle\Muscular dystrophy\...

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

\Disease\Genetic disease\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Distal myopathy Welander type (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Developmental disorder (disorder)\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
\Disease\Developmental disorder (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (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

3448212018 Distal myopathy Welander type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3448213011 Distal myopathy Welander type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3448214017 Distal myopathy Swedish type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5403535016 A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403536015 A rare distal myopathy characterised by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3448212018 Distal myopathy Welander type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3448213011 Distal myopathy Welander type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3448214017 Distal myopathy Swedish type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3448215016 A distal myopathy with characteristics of weakness in the distal upper extremities usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremities primarily in toe and ankle extensors. This disease is mainly restricted to a geographical area around the Baltic Sea and is a late adult-onset disorder. Caused by a missense change (c.1362G>A; p.E384K) in TIA1 gene (2p13) which encodes nucleolysin TIA-1 isoform p40, a key component of stress granules. Inherited as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403535016 A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403536015 A rare distal myopathy characterised by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3413091001000113 Myopathie, distale, Typ Welander de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

932181000172116 myopathie distale type Welander fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

954211000172114 WDM - distal myopathy, Welander type fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

932181000172116 myopathie distale type Welander fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

954211000172114 WDM - distal myopathy, Welander type fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3413091001000113 Myopathie, distale, Typ Welander de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal myopathy Welander type (disorder)	Is a	Distal muscular dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal myopathy Welander type (disorder)	Is a	Autosomal dominant muscular dystrophy not predominantly limb girdle (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal myopathy Welander type (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal myopathy Welander type (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal myopathy Welander type (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Distal myopathy Welander type (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Distal myopathy Welander type (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal myopathy Welander type (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Distal myopathy Welander type (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal myopathy Welander type (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal myopathy Welander type (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal myopathy Welander type (disorder)	Occurrence	Adulthood	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal myopathy Welander type (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal myopathy Welander type (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)