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1230303001: Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (disorder)


Status: current, Primitive. Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5068811012 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease en Synonym Active Case insensitive SNOMED CT core
5068812017 Fatal congenital hypertrophic cardiomyopathy due to glycogenosis en Synonym Active Case insensitive SNOMED CT core
5068813010 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core
5068819014 A rare glycogen storage disease with 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. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a Congenital anomaly of myocardium true Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a Glycogen storage disease true Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a Developmental hereditary disorder true Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a Hypertrophic cardiomyopathy due to glycogen storage disease true Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Due to Glycogen storage disease true Inferred relationship Some 2
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Occurrence Congenital true Inferred relationship Some 1
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Finding site Myocardium structure true Inferred relationship Some 1
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Associated morphology Hypertrophy true Inferred relationship Some 1
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Pathological process Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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