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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5068812017 Fatal congenital hypertrophic cardiomyopathy due to glycogenosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5068813010 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400141019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400142014 A rare glycogen storage disease characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5068811012 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5068812017 Fatal congenital hypertrophic cardiomyopathy due to glycogenosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5068813010 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5400141019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400142014 A rare glycogen storage disease characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3444591001000110 Fatale kongenitale hypertrophe Kardiomyopathie durch Glykogenose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3444591001000110 Fatale kongenitale hypertrophe Kardiomyopathie durch Glykogenose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a Congenital anomaly of myocardium true Inferred relationship Existential restriction modifier (core metadata concept)
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a Glycogen storage disease true Inferred relationship Existential restriction modifier (core metadata concept)
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a Hypertrophic cardiomyopathy due to glycogen storage disease true Inferred relationship Existential restriction modifier (core metadata concept)
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Due to Glycogen storage disease true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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