55016009: Congenital muscular hypertrophy-cerebral syndrome (disorder)

SNOMED CT Concept\Clinical 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 skeletal AND/OR smooth 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 skeletal AND/OR smooth muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Congenital disease\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

91471017 Congenital muscular hypertrophy-cerebral syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

91472012 Bruch-de Lange syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

793311012 Congenital muscular hypertrophy-cerebral syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital muscular hypertrophy-cerebral syndrome	Is a	Congenital myopathy	false	Inferred relationship	Existential restriction modifier
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Congenital muscular hypertrophy-cerebral syndrome	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Existential restriction modifier
Congenital muscular hypertrophy-cerebral syndrome	Is a	Muscular dystrophy	false	Inferred relationship	Existential restriction modifier
Congenital muscular hypertrophy-cerebral syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Congenital muscular hypertrophy-cerebral syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Congenital muscular hypertrophy-cerebral syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Congenital muscular hypertrophy-cerebral syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Congenital muscular hypertrophy-cerebral syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Congenital muscular hypertrophy-cerebral syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	3
Congenital muscular hypertrophy-cerebral syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Congenital muscular hypertrophy-cerebral syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
Congenital muscular hypertrophy-cerebral syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier	2
Congenital muscular hypertrophy-cerebral syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Congenital muscular hypertrophy-cerebral syndrome	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Existential restriction modifier
Congenital muscular hypertrophy-cerebral syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital muscular hypertrophy-cerebral syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	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	Active	Entire term case insensitive	SNOMED CT core module
91472012	Bruch-de Lange syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
793311012	Congenital muscular hypertrophy-cerebral syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module