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725027004: Muscle and heart glycogen synthase deficiency (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
3437625016 Muscle and heart glycogen synthase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3437626015 Muscle and heart glycogen synthase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
3437627012 Glycogen storage disease due to muscle and heart glycogen synthase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
3437628019 Glycogen storage disease type 0b en Synonym Active Only initial character case insensitive SNOMED CT core module
3437629010 Glycogenosis due to muscle and heart glycogen synthase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
3437630017 Glycogenosis type 0b en Synonym Active Only initial character case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Muscle and heart glycogen synthase deficiency Due to Glycogen synthase deficiency true Inferred relationship Existential restriction modifier 2
Muscle and heart glycogen synthase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Muscle and heart glycogen synthase deficiency Is a Cardiomyopathy associated with another disorder false Inferred relationship Existential restriction modifier
Muscle and heart glycogen synthase deficiency Is a Hypertrophic cardiomyopathy false Inferred relationship Existential restriction modifier
Muscle and heart glycogen synthase deficiency Is a Glycogen synthase deficiency false Inferred relationship Existential restriction modifier
Muscle and heart glycogen synthase deficiency Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier
Muscle and heart glycogen synthase deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier 4
Muscle and heart glycogen synthase deficiency Finding site Liver structure false Inferred relationship Existential restriction modifier 4
Muscle and heart glycogen synthase deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Muscle and heart glycogen synthase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 6
Muscle and heart glycogen synthase deficiency Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 6
Muscle and heart glycogen synthase deficiency Associated morphology Hypertrophy false Inferred relationship Existential restriction modifier 5
Muscle and heart glycogen synthase deficiency Finding site Myocardium structure false Inferred relationship Existential restriction modifier 5
Muscle and heart glycogen synthase deficiency Is a Congenital cardiovascular disorder false Inferred relationship Existential restriction modifier
Muscle and heart glycogen synthase deficiency Is a Hypertrophic cardiomyopathy due to glycogen storage disease true Inferred relationship Existential restriction modifier
Muscle and heart glycogen synthase deficiency Is a Glycogen storage disease true Inferred relationship Existential restriction modifier
Muscle and heart glycogen synthase deficiency Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier 1
Muscle and heart glycogen synthase deficiency Finding site Myocardium structure true Inferred relationship Existential restriction modifier 1
Muscle and heart glycogen synthase deficiency Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Muscle and heart glycogen synthase deficiency Is a Metabolic myopathy true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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