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 (disorder)\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 (disorder)\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome

\Disease (disorder)\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\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 (disorder)\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\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)\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)\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\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)\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)\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)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon (disorder)\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon (disorder)\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon (disorder)\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease (disorder)\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:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
91471017	Congenital muscular hypertrophy-cerebral syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
91472012	Bruch-de Lange syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
793311012	Congenital muscular hypertrophy-cerebral syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1197061000005119	kongenit muskelhypertrofi–cerebralt syndrom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)	Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

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 (body 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	kongenit 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 (body structure)	false	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure (body 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	dysgenese	false	Inferred relationship	Some	3
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure (body 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 (attribute)	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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