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712641002: Deficiency of glucosyltransferase 1 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3083319011 Deficiency of glucosyltransferase 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3083479017 Deficiency of glucosyltransferase 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
10646681000172117 déficit en glucosyltransférase 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4061871000172111 deficiëntie van glucosyltransferase 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4061881000172114 glucosyltransferase-1-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of glucosyltransferase 1 Is a Specific enzyme deficiency true Inferred relationship Some
Deficiency of glucosyltransferase 1 Is a Autosomal recessive hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital disorder of glycosylation type 1c (disorder) Due to True Deficiency of glucosyltransferase 1 Inferred relationship Some 1

This concept is not in any reference sets

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