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124715007: Deficiency of phosphoribosylformylglycinamidine synthase (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
205039010 Deficiency of phosphoribosylformylglycinamidine synthetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
205040012 Deficiency of phosphoribosylformylglycinamidine synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
728447016 Deficiency of phosphoribosylformylglycinamidine synthase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
205039010 Deficiency of phosphoribosylformylglycinamidine synthetase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
205039010 Deficiency of phosphoribosylformylglycinamidine synthetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
205040012 Deficiency of phosphoribosylformylglycinamidine synthase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
205040012 Deficiency of phosphoribosylformylglycinamidine synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
728447016 Deficiency of phosphoribosylformylglycinamidine synthase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
728447016 Deficiency of phosphoribosylformylglycinamidine synthase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4777401000241111 déficit en phosphoribosylformylglycinamidine synthase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4777401000241111 déficit en phosphoribosylformylglycinamidine synthase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of phosphoribosylformylglycinamidine synthase Is a Specific enzyme deficiency true Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of phosphoribosylformylglycinamidine synthase Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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