764859001: Laing early-onset distal myopathy (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\Laing early-onset distal myopathy

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy

\Muscle finding\Disorder of muscle\...

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

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy

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

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy

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

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy

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

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy

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

\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy

\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy

\Disease\Genetic disease\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Laing early-onset distal myopathy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Developmental disorder\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Laing early-onset distal myopathy
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Laing early-onset distal myopathy

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

3655416016 Distal myopathy type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3655417013 Laing early-onset distal myopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3655418015 Gowers disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3655419011 Laing early-onset distal myopathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404398010 Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404399019 Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterised by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Laing early-onset distal myopathy	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Laing early-onset distal myopathy	Is a	Distal muscular dystrophy	true	Inferred relationship	Some
Laing early-onset distal myopathy	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Laing early-onset distal myopathy	Occurrence	Congenital	false	Inferred relationship	Some	2
Laing early-onset distal myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Laing early-onset distal myopathy	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Laing early-onset distal myopathy	Occurrence	Congenital	false	Inferred relationship	Some	1
Laing early-onset distal myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Laing early-onset distal myopathy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Laing early-onset distal myopathy	Occurrence	Childhood	true	Inferred relationship	Some	1
Laing early-onset distal myopathy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Laing early-onset distal myopathy	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)