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726051002: Myotonia congenita (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3447739012 Myotonia congenita (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3447740014 Myotonia congenita en Synonym Active Entire term case insensitive SNOMED CT core module
3447741013 Congenital myotonia en Synonym Active Entire term case insensitive SNOMED CT core 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
Myotonia congenita Is a Myotonic disorder true Inferred relationship Existential restriction modifier
Myotonia congenita Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Myotonia congenita Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital myotonia, autosomal recessive form Is a True Myotonia congenita Inferred relationship Existential restriction modifier
Congenital myotonia, autosomal dominant form Is a True Myotonia congenita Inferred relationship Existential restriction modifier
Richieri Costa-da Silva syndrome Is a False Myotonia congenita Inferred relationship Existential restriction modifier
Schwartz-Jampel syndrome Is a True Myotonia congenita Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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