129620000: Scapuloperoneal muscular dystrophy (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)

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

\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)

\Disorder of skeletal muscle\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)

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

\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)

\Chronic disease of musculoskeletal system\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)

\Disorder of skeletal muscle\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)

\Disease\Genetic disease\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)
\Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)
\Disease\Developmental disorder (disorder)\Muscular dystrophy\Scapuloperoneal muscular dystrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Scapuloperoneal muscular dystrophy (disorder)	Is a	Muscular dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Scapuloperoneal muscular dystrophy (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Scapuloperoneal muscular dystrophy (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Scapuloperoneal muscular dystrophy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Scapuloperoneal muscular dystrophy (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Scapuloperoneal muscular dystrophy (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Scapuloperoneal muscular dystrophy (disorder)	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Severe scapuloperoneal muscular dystrophy with cardiomyopathy	Is a	True	Scapuloperoneal muscular dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene.	Is a	True	Scapuloperoneal muscular dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
208440018	Scapuloperoneal muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
733775010	Scapuloperoneal muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
208440018	Scapuloperoneal muscular dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
208440018	Scapuloperoneal muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
208441019	Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
733775010	Scapuloperoneal muscular dystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
733775010	Scapuloperoneal muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4790761000241113	dystrophie musculaire scapulo-péronière	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4790761000241113	dystrophie musculaire scapulo-péronière	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module