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725027004: Muscle and heart glycogen synthase deficiency (disorder)

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3437625016 Muscle and heart glycogen synthase deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3437626015 Muscle and heart glycogen synthase deficiency en Synonym Active Case insensitive SNOMED CT core
3437627012 Glycogen storage disease due to muscle and heart glycogen synthase deficiency en Synonym Active Case insensitive SNOMED CT core
3437628019 Glycogen storage disease type 0b en Synonym Active Initial character case insensitive SNOMED CT core
3437629010 Glycogenosis due to muscle and heart glycogen synthase deficiency en Synonym Active Case insensitive SNOMED CT core
3437630017 Glycogenosis type 0b en Synonym Active Initial character case insensitive SNOMED CT core
3437631018 This syndrome has characteristics of muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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