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726051002: Myotonia congenita (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3447739012 Myotonia congenita (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447740014 Myotonia congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447741013 Congenital myotonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403523015 A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403524014 A rare, genetic, skeletal muscle channelopathy characterised by slow muscle relaxation after contraction (myotonia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447739012 Myotonia congenita (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447740014 Myotonia congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447741013 Congenital myotonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447742018 A disorder of the skeletal muscles with childhood onset of myotonia. The myotonia most often occurs in the legs and can interfere with movement. There are two major forms of this disease Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. The disease is caused by mutations in the CLCN1 gene. Mutations in this gene alter the usual structure or function of chloride channels. This disruption in chloride ion flow triggers prolonged muscle contractions. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403523015 A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403524014 A rare, genetic, skeletal muscle channelopathy characterised by slow muscle relaxation after contraction (myotonia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3449351001000111 Myotonia congenita Typ Thomsen und Becker de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6046711000241110 myotonie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6046711000241110 myotonie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449351001000111 Myotonia congenita Typ Thomsen und Becker de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Myotonia congenita Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Myotonia congenita Is a Myotonic disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Myotonia congenita Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Myotonia congenita Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital myotonia, autosomal recessive form Is a True Myotonia congenita Inferred relationship Existential restriction modifier (core metadata concept)
Congenital myotonia, autosomal dominant form Is a True Myotonia congenita Inferred relationship Existential restriction modifier (core metadata concept)
Richieri Costa-da Silva syndrome Is a False Myotonia congenita Inferred relationship Existential restriction modifier (core metadata concept)
Schwartz-Jampel syndrome Is a True Myotonia congenita Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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