782675008: Distal myopathy with anterior tibial onset (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 with anterior tibial onset

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy with anterior tibial onset

\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 with anterior tibial onset

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy with anterior tibial onset

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

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy with anterior tibial onset

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy with anterior tibial onset

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

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy with anterior tibial onset

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

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy with anterior tibial onset

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy with anterior tibial onset

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

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy with anterior tibial onset

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy with anterior tibial onset

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

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy with anterior tibial onset

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy with anterior tibial onset

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3755110015 Distal myopathy with anterior tibial onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755111016 Distal anterior compartment myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755112011 Distal myopathy with anterior tibial onset (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755113018 A rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. There is evidence the disease is caused by homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. Patients become wheelchair dependent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3755110015 Distal myopathy with anterior tibial onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755111016 Distal anterior compartment myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755112011 Distal myopathy with anterior tibial onset (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755113018 A rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. There is evidence the disease is caused by homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. Patients become wheelchair dependent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3386881001000117 Distale Myopathie mit Beginn am vorderen Schienenbein de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5590401000241111 myopathie distale débutant au niveau du muscle tibial antérieur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5590401000241111 myopathie distale débutant au niveau du muscle tibial antérieur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3386881001000117 Distale Myopathie mit Beginn am vorderen Schienenbein 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 with anterior tibial onset	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal myopathy with anterior tibial onset	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal myopathy with anterior tibial onset	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal myopathy with anterior tibial onset	Is a	Distal muscular dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal myopathy with anterior tibial onset	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal myopathy with anterior tibial onset	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

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This concept is not in any reference sets