240061000: Congenital muscular dystrophy with arthrogryposis multiplex congenita (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\Congenital muscular dystrophy with arthrogryposis multiplex congenita

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita

\Muscle finding\Disorder of muscle\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita

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

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\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\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\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\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\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\Congenital muscular dystrophy with arthrogryposis multiplex congenita
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy with arthrogryposis multiplex congenita

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

359657011 Congenital muscular dystrophy with arthrogryposis multiplex congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

629152010 Congenital muscular dystrophy with arthrogryposis multiplex congenita (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1589031000052119 medfödd muskeldystrofi med artrogrypos multiplex congenita sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Is a	medfödd muskeldystrofi	false	Inferred relationship	Some
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Occurrence	Congenital	false	Inferred relationship	Some
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Occurrence	Congenital	false	Inferred relationship	Some	4
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Associated morphology	Dystrophy	false	Inferred relationship	Some	4
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	4
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Some
Congenital muscular dystrophy with arthrogryposis multiplex congenita	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
359657011	Congenital muscular dystrophy with arthrogryposis multiplex congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629152010	Congenital muscular dystrophy with arthrogryposis multiplex congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1589031000052119	medfödd muskeldystrofi med artrogrypos multiplex congenita	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)