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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
12994015 Glycogen storage disease, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
12995019 Hepatorenal glycogen storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
12997010 von Gierke's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
12998017 GSD I en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3037037019 Glycogen storage disease, type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
502178014 Liver glycogen disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
502179018 von Gierke disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
812951015 Glycogen storage disease, type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Glycogen storage disease, type I est un(e) (attribut) Congenital anomaly of skeletal muscle false Inferred relationship Some
Glycogen storage disease, type I morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Glycogen storage disease, type I localisation d'une constatation (attribut) système digestif false Inferred relationship Some 1
Glycogen storage disease, type I est un(e) (attribut) Congenital anomaly of trunk false Inferred relationship Some
Glycogen storage disease, type I est un(e) (attribut) Congenital anomaly of digestive system false Inferred relationship Some
Glycogen storage disease, type I est un(e) (attribut) Glycogen storage disease, hepatic form true Inferred relationship Some
Glycogen storage disease, type I est un(e) (attribut) Congenital anomaly of digestive organ false Inferred relationship Some
Glycogen storage disease, type I est un(e) (attribut) maladie de stockage du glycogène (trouble) false Inferred relationship Some
Glycogen storage disease, type I est un(e) (attribut) Congenital anomaly of liver false Inferred relationship Some
Glycogen storage disease, type I est un(e) (attribut) Congenital anomaly of abdomen false Inferred relationship Some
Glycogen storage disease, type I est un(e) (attribut) Congenital anomaly of body cavity false Inferred relationship Some
Glycogen storage disease, type I est un(e) (attribut) Lesion of liver false Inferred relationship Some
Glycogen storage disease, type I morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Glycogen storage disease, type I localisation d'une constatation (attribut) foie true Inferred relationship Some 2
Glycogen storage disease, type I est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Glycogen storage disease, type I survenue (attribut) congénital true Inferred relationship Some 1
Glycogen storage disease, type I localisation d'une constatation (attribut) organe digestif (structure corporelle) false Inferred relationship Some 1
Glycogen storage disease, type I morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Glycogen storage disease, type I localisation d'une constatation (attribut) structure de muscle squelettique false Inferred relationship Some
Glycogen storage disease, type I localisation d'une constatation (attribut) foie false Inferred relationship Some 1

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

Reference Sets

Canada French language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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