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\Myopathy\...

\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\Musculoskeletal disorder\...

\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular hypertrophy-cerebral syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

793311012 Congenital muscular hypertrophy-cerebral syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

91471017 Congenital muscular hypertrophy-cerebral syndrome en Synonym Active Case insensitive SNOMED CT core

91472012 Bruch-de Lange syndrome en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital muscular hypertrophy-cerebral syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Pathological process	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	true	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	Congenital anomaly	false	Inferred relationship	Some	2
Congenital muscular hypertrophy-cerebral syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Congenital muscular hypertrophy-cerebral syndrome	Is a	Congenital myopathy	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	Developmental abnormality	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	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
793311012	Congenital muscular hypertrophy-cerebral syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
91471017	Congenital muscular hypertrophy-cerebral syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
91472012	Bruch-de Lange syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core