FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

274864009: Glycogen storage disease due to acid maltase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
410733010 Glycogen heart disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2765038013 Glycogen storage disease, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3297533010 Pompe's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3297616011 Pompe disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331980017 Glycogen storage disease due to acid maltase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331981018 Alpha-1,4-glucosidase acid deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331982013 Glycogenosis due to acid maltase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331983015 Glycogenosis type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5247931017 Glycogen storage disease due to acid maltase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331984014 Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
410733010 Glycogen heart disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
410733010 Glycogen heart disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
410734016 Generalised glycogen storage disease of infants en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
410735015 Generalized glycogen storage disease of infants en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
667668013 Glycogen storage disease, type II (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2765038013 Glycogen storage disease, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3297533010 Pompe's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3297616011 Pompe disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331980017 Glycogen storage disease due to acid maltase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331980017 Glycogen storage disease due to acid maltase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331981018 Alpha-1,4-glucosidase acid deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331981018 Alpha-1,4-glucosidase acid deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331982013 Glycogenosis due to acid maltase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331982013 Glycogenosis due to acid maltase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331983015 Glycogenosis type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5247931017 Glycogen storage disease due to acid maltase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331984014 Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448941001000116 Glykogenose Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5117761000241113 maladie de stockage du glycogène par déficit en maltase acide fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5117761000241113 maladie de stockage du glycogène par déficit en maltase acide fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3448941001000116 Glykogenose Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (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
Glycogen storage disease due to acid maltase deficiency Is a Glycogen storage disease true Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to acid maltase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Glycogen storage disease due to acid maltase deficiency Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to acid maltase deficiency Finding site Liver structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to acid maltase deficiency Is a Glycogen storage disease, muscular form false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to acid maltase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to acid maltase deficiency Due to Deficiency of glucan 1,4-alpha-glucosidase true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal. Is a True Glycogen storage disease due to acid maltase deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes. Is a True Glycogen storage disease due to acid maltase deficiency Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start