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

722343009: Glycogen storage disease due to acid maltase deficiency, late-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
3331997011 Glycogen storage disease type II late onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331998018 Glycogen storage disease due to acid maltase deficiency, late-onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331999014 Alpha-1,4-glucosidase acid deficiency, late onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332000015 Glycogenosis type II, late onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3332001016 Pompe disease, late onset en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5247937018 Glycogen storage disease due to acid maltase deficiency, late-onset (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332002011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332003018 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 characterised by an accumulation of glycogen in lysosomes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331996019 Glycogen storage disease type II late onset (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331997011 Glycogen storage disease type II late onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331998018 Glycogen storage disease due to acid maltase deficiency, late-onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331998018 Glycogen storage disease due to acid maltase deficiency, late-onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331999014 Alpha-1,4-glucosidase acid deficiency, late onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331999014 Alpha-1,4-glucosidase acid deficiency, late onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332000015 Glycogenosis type II, late onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3332001016 Pompe disease, late onset en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5247937018 Glycogen storage disease due to acid maltase deficiency, late-onset (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332002011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332003018 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 characterised by an accumulation of glycogen in lysosomes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
6295931000241113 glycogénose par déficit en maltase acide d'apparition tardive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6295941000241115 glycogénose de type II d'apparition tardive fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6295951000241117 maladie du stockage du glycogène de type II à début tardif fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6295931000241113 glycogénose par déficit en maltase acide d'apparition tardive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6295941000241115 glycogénose de type II d'apparition tardive fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6295951000241117 maladie du stockage du glycogène de type II à début tardif fr 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
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 Glycogen storage disease due to acid maltase deficiency true 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. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
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. 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

Back to Start