726107008: 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
\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Distal myopathy Welander type
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\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
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\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
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Developmental disorder\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3448213011 Distal myopathy Welander type en Synonym Active Initial character case insensitive SNOMED CT core

3448214017 Distal myopathy Swedish type en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal myopathy Welander type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Distal myopathy Welander type	Clinical course	Progressive	true	Inferred relationship	Some	3
Distal myopathy Welander type	Is a	Distal muscular dystrophy	true	Inferred relationship	Some
Distal myopathy Welander type	Is a	Autosomal dominant muscular dystrophy not predominantly limb girdle	false	Inferred relationship	Some
Distal myopathy Welander type	Occurrence	Congenital	false	Inferred relationship	Some	2
Distal myopathy Welander type	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Distal myopathy Welander type	Occurrence	Congenital	false	Inferred relationship	Some	3
Distal myopathy Welander type	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Distal myopathy Welander type	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Distal myopathy Welander type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Distal myopathy Welander type	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Distal myopathy Welander type	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Distal myopathy Welander type	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Distal myopathy Welander type	Occurrence	Adulthood	true	Inferred relationship	Some	1

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3448212018	Distal myopathy Welander type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3448213011	Distal myopathy Welander type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3448214017	Distal myopathy Swedish type	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core