193222002: Benign congenital myopathy (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Benign congenital myopathy (disorder)

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Benign congenital myopathy (disorder)

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

\Hereditary disorder of musculoskeletal system\Benign congenital myopathy (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Benign congenital myopathy (disorder)

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Benign congenital myopathy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Benign congenital myopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Benign congenital myopathy (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Benign congenital myopathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Benign congenital myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Benign congenital myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Benign congenital myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Benign congenital myopathy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Benign congenital myopathy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Benign congenital myopathy (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Benign congenital myopathy (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Benign congenital myopathy (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

297605010 Benign congenital myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

577083019 Benign congenital myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

76371000077117 myopathie congénitale bénigne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Benign congenital myopathy (disorder)	Is a	Muscular dystrophy (disorder)	false	Inferred relationship	Some
Benign congenital myopathy (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Benign congenital myopathy (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Benign congenital myopathy (disorder)	Is a	Congenital disease	false	Inferred relationship	Some
Benign congenital myopathy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Benign congenital myopathy (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Benign congenital myopathy (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Benign congenital myopathy (disorder)	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Benign congenital myopathy (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Benign congenital myopathy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Benign congenital myopathy (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Benign congenital myopathy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Benign congenital myopathy (disorder)	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Benign congenital myopathy (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Benign congenital myopathy (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Benign congenital myopathy (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.	Is a	True	Benign congenital myopathy (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
297605010	Benign congenital myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
577083019	Benign congenital myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
76371000077117	myopathie congénitale bénigne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module