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725027004: Muscle and heart glycogen synthase deficiency (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 Reference Sets
3437625016 Muscle and heart glycogen synthase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3437626015 Muscle and heart glycogen synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3437627012 Glycogen storage disease due to muscle and heart glycogen synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3437628019 Glycogen storage disease type 0b en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3437629010 Glycogenosis due to muscle and heart glycogen synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3437630017 Glycogenosis type 0b en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3991101000052112 brist på muskel- och hjärtglykogensyntas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set

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

This concept is not in any reference sets

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