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722302009: Glycogen storage disease due to acid maltase deficiency, infantile onset (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331990013 Glycogen storage disease due to acid maltase deficiency, infantile onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331991012 Glycogenosis due to acid maltase deficiency, infantile onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331992017 Glycogenosis type II, infantile onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331993010 Pompe disease, infantile onset en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3334442014 Glycogen storage disease type II infantile onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5247932012 Glycogen storage disease due to acid maltase deficiency, infantile onset (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331988012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332474015 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. Characterised by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331990013 Glycogen storage disease due to acid maltase deficiency, infantile onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331990013 Glycogen storage disease due to acid maltase deficiency, infantile onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331991012 Glycogenosis due to acid maltase deficiency, infantile onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331991012 Glycogenosis due to acid maltase deficiency, infantile onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331992017 Glycogenosis type II, infantile onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331993010 Pompe disease, infantile onset en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331994016 Glycogen storage disease type II infantile onset (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3334442014 Glycogen storage disease type II infantile onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5247932012 Glycogen storage disease due to acid maltase deficiency, infantile onset (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331988012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332474015 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. Characterised by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
6006451000241112 déficit en alpha-1,4-glucosidase acide à début infantile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6006461000241110 glycogénose de type II à début infantile fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6006471000241119 maladie de Pompe à début infantile fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6006451000241112 déficit en alpha-1,4-glucosidase acide à début infantile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6006461000241110 glycogénose de type II à début infantile fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6006471000241119 maladie de Pompe à début infantile fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
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 Glycogen storage disease due to acid maltase deficiency true Inferred relationship Existential restriction modifier (core metadata concept)
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. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
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. 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

This concept is not in any reference sets

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