55016009: Congenital muscular hypertrophy-cerebral syndrome (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 hypertrophy-cerebral syndrome

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome

\Muscle finding\Disorder of muscle\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome

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

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\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 hypertrophy-cerebral syndrome
\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 hypertrophy-cerebral syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\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 hypertrophy-cerebral syndrome
\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 hypertrophy-cerebral syndrome
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\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 hypertrophy-cerebral syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\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 hypertrophy-cerebral syndrome
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome

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
Congenital muscular hypertrophy-cerebral syndrome	Is a	Congenital myopathy	false	Inferred relationship	Some
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Congenital muscular hypertrophy-cerebral syndrome	Is a	Muscular dystrophy	false	Inferred relationship	Some
Congenital muscular hypertrophy-cerebral syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Congenital muscular hypertrophy-cerebral syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital muscular hypertrophy-cerebral syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Congenital muscular hypertrophy-cerebral syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Some
Congenital muscular hypertrophy-cerebral syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	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
91471017	Congenital muscular hypertrophy-cerebral syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
91472012	Bruch-de Lange syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
793311012	Congenital muscular hypertrophy-cerebral syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1588881000052116	medfödd muskelhypertrofi-cerebralt syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)