124269005: Deficiency of 1,3-beta-glucan synthase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of 1,3-beta-glucan synthase

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

203899011 Deficiency of callose synthetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203900018 Deficiency of UDPglucose-1,3-beta-D-glucan glucosyltransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

203901019 Deficiency of 1,3-beta-D-glucan-UDP glucosyltransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

203902014 Deficiency of 1,3-beta-glucan synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727837013 Deficiency of 1,3-beta-glucan synthase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5651711000172116 déficit en 1,3-beta-glucane synthase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4785411000172117 deficiëntie van callosesynthetase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4785421000172110 deficiëntie van UDP-glucose-1,3-beta-D-glucaanglucosyltransferase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4785431000172113 deficiëntie van 1,3-bètaglucaansynthase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4785441000172118 deficiëntie van 1,3-bèta-D-glucaan-UDP-glucosyltransferase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of 1,3-beta-glucan synthase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of 1,3-beta-glucan synthase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets