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871638006: Hypertrophic cardiomyopathy due to glycogen storage disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3973698012 Hypertrophic cardiomyopathy due to glycogen storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3973699016 Glycogen storage disease with hypertrophic cardiomyopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3973700015 Hypertrophic cardiomyopathy due to glycogen storage disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5599061000241114 cardiomyopathie hypertrophique due à une maladie de stockage du glycogène fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypertrophic cardiomyopathy due to glycogen storage disease Is a Hypertrophic cardiomyopathy false Inferred relationship Some
Hypertrophic cardiomyopathy due to glycogen storage disease Is a Cardiomyopathy due to storage disease true Inferred relationship Some
Hypertrophic cardiomyopathy due to glycogen storage disease Finding site Myocardium structure true Inferred relationship Some 1
Hypertrophic cardiomyopathy due to glycogen storage disease Associated morphology Hypertrophy true Inferred relationship Some 1
Hypertrophic cardiomyopathy due to glycogen storage disease Due to Glycogen storage disease true Inferred relationship Some 2
Hypertrophic cardiomyopathy due to glycogen storage disease Is a Hypertrophic cardiomyopathy due to disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterized by 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. Is a True Hypertrophic cardiomyopathy due to glycogen storage disease Inferred relationship Some
A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases. Is a True Hypertrophic cardiomyopathy due to glycogen storage disease Inferred relationship Some

Reference Sets

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