111503008: Merosin deficient congenital muscular dystrophy (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\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy

\Muscle finding\Disorder of muscle\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy

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

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Merosin deficient congenital muscular dystrophy

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
Merosin deficient congenital muscular dystrophy	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Some
Merosin deficient congenital muscular dystrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Merosin deficient congenital muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some
Merosin deficient congenital muscular dystrophy	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Merosin deficient congenital muscular dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Merosin deficient congenital muscular dystrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Merosin deficient congenital muscular dystrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Merosin deficient congenital muscular dystrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Merosin deficient congenital muscular dystrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Merosin deficient congenital muscular dystrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Merosin deficient congenital muscular dystrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Merosin deficient congenital muscular dystrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Merosin deficient congenital muscular dystrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Merosin deficient congenital muscular dystrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Merosin deficient congenital muscular dystrophy	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Merosin deficient congenital muscular dystrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Merosin deficient congenital muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	3
Merosin deficient congenital muscular dystrophy	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Merosin deficient congenital muscular dystrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	3
Merosin deficient congenital muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	2
Merosin deficient congenital muscular dystrophy	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Merosin deficient congenital muscular dystrophy	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Merosin deficient congenital muscular dystrophy	Occurrence	Congenital	true	Inferred relationship	Some	1
Merosin deficient congenital muscular dystrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Merosin deficient congenital muscular dystrophy	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
178745015	Merosin deficient congenital muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
632238011	Merosin deficient congenital muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7665951000172111	dystrophie musculaire congénitale avec déficit primaire en mérosine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7665961000172113	dystrophie musculaire congénitale liée à la sous-unité alpha 2 de la laminine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7665971000172116	DMC1A - dystrophie musculaire congénitale de type 1A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5539171000172115	merosinedeficiënte congenitale spierdystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5539181000172117	laminine-alfa2-deficiënte congenitale spierdystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)