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7265005: Glycogen storage disease, type I (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 Reference Sets
12994015 Glycogen storage disease, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
12995019 Hepatorenal glycogen storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
12997010 von Gierke's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
12998017 GSD I en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
502178014 Liver glycogen disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
502179018 von Gierke disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
812951015 Glycogen storage disease, type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3037037019 Glycogen storage disease, type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3443551000052113 glykogeninlagringssjukdom typ 1 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Glycogen storage disease, type I Is a Glycogen storage disease false Inferred relationship Some
Glycogen storage disease, type I Is a Congenital anomaly of liver false Inferred relationship Some
Glycogen storage disease, type I Occurrence Congenital true Inferred relationship Some 1
Glycogen storage disease, type I Finding site Digestive organ structure false Inferred relationship Some 1
Glycogen storage disease, type I Associated morphology Developmental anomaly (morphologic abnormality) false Inferred relationship Some 1
Glycogen storage disease, type I Finding site Skeletal muscle structure false Inferred relationship Some
Glycogen storage disease, type I Finding site Liver structure false Inferred relationship Some 1
Glycogen storage disease, type I Is a Congenital anomaly of skeletal muscle false Inferred relationship Some
Glycogen storage disease, type I Associated morphology kongenital anomali false Inferred relationship Some 1
Glycogen storage disease, type I Finding site Structure of digestive system (body structure) false Inferred relationship Some 1
Glycogen storage disease, type I Is a Congenital anomaly of trunk false Inferred relationship Some
Glycogen storage disease, type I Is a Congenital anomaly of digestive system false Inferred relationship Some
Glycogen storage disease, type I Is a Glycogen storage disease, hepatic form true Inferred relationship Some
Glycogen storage disease, type I Is a Congenital anomaly of digestive organ false Inferred relationship Some
Glycogen storage disease, type I Is a Congenital anomaly of abdomen false Inferred relationship Some
Glycogen storage disease, type I Is a Congenital anomaly of body cavity false Inferred relationship Some
Glycogen storage disease, type I Is a Lesion of liver (finding) false Inferred relationship Some
Glycogen storage disease, type I Associated morphology kongenital anomali false Inferred relationship Some 1
Glycogen storage disease, type I Finding site Liver structure true Inferred relationship Some 2
Glycogen storage disease, type I Is a Autosomal recessive hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Glycogen storage disease type Ia (disorder) Is a True Glycogen storage disease, type I Inferred relationship Some
Glucose-6-phosphate transport defect Is a True Glycogen storage disease, type I Inferred relationship Some

Reference Sets

GB English

US English

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