43152001: 'central core'-myopathie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease

\Muscle finding\Disorder of muscle\...

\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Central core disease

\Hereditary myopathy (disorder)\Central core disease

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease

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

\Hereditary disorder of musculoskeletal system\Central core disease

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Central core disease

\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Central core disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Central core disease
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Central core disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Central core disease
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Central core disease
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Central core disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Central core disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Central core disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease
\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\Central core disease
\Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Central core disease
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Central core disease
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease
\Disease\Developmental disorder\Developmental hereditary disorder\Central core disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Central core disease

Status: current, 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

71981018 Central core disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

780131019 Central core disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2966549015 Central core myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

11901000146114 central core disease nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

1289781000146113 'central core'-myopathie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

1289791000146110 'central core'-myopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10206431000146119 'central core'-ziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4945364013 An inherited neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10206421000146116 Aangeboren spierziekte waarbij het centrum van de spiervezels aangetast is. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Central core disease	Is a	Congenital myopathy	false	Inferred relationship	Some
Central core disease	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Central core disease	Associated morphology	Central cores	true	Inferred relationship	Some	1
Central core disease	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Central core disease	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Central core disease	Occurrence	Congenital	false	Inferred relationship	Some
Central core disease	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Central core disease	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Central core disease	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Central core disease	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Central core disease	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Central core disease	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Central core disease	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Central core disease	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Central core disease	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Central core disease	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Central core disease	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Central core disease	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Central core disease	Occurrence	Congenital	false	Inferred relationship	Some	3
Central core disease	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Central core disease	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Central core disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Central core disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Central core disease	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Central core disease	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Central core disease	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Central core disease	Is a	Hereditary myopathy (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive central core disease	Is a	True	Central core disease	Inferred relationship	Some
Autosomal dominant central core disease (disorder)	Is a	True	Central core disease	Inferred relationship	Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
71981018	Central core disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
780131019	Central core disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2966549015	Central core myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
11901000146114	central core disease	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1289781000146113	'central core'-myopathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1289791000146110	'central core'-myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10206431000146119	'central core'-ziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4945364013	An inherited neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10206421000146116	Aangeboren spierziekte waarbij het centrum van de spiervezels aangetast is.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)