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43152001: Central core disease (disorder)

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
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
71981018 Central core disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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
3395061001000110 Central-Core-Myopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982321000172111 myopathie congénitale à "central cores" fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
991161000172112 myopathie congénitale à cores centraux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982321000172111 myopathie congénitale à "central cores" fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
991161000172112 myopathie congénitale à cores centraux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395061001000110 Central-Core-Myopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Central core disease Is a Congenital myopathy false Inferred relationship Existential restriction modifier (core metadata concept)
Central core disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Central core disease Associated morphology Central cores true Inferred relationship Existential restriction modifier (core metadata concept) 1
Central core disease Is a Congenital anomaly of skeletal muscle (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Central core disease Is a Disorder of skeletal muscle false Inferred relationship Existential restriction modifier (core metadata concept)
Central core disease Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Central core disease Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Central core disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Central core disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Central core disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Central core disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Central core disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Central core disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Central core disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Central core disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Central core disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Central core disease Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Central core disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Central core disease Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Central core disease Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Central core disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Central core disease Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Central core disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Central core disease Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Central core disease Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Central core disease Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive central core disease Is a True Central core disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant central core disease Is a True Central core disease Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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