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723454008: Phosphoribosylpyrophosphate synthetase superactivity (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424688017 Phosphoribosylpyrophosphate synthetase superactivity (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424689013 Phosphoribosylpyrophosphate synthetase superactivity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424690016 Phosphoribosyl pyrophosphate synthetase superactivity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403077011 A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403078018 A rare X-linked disorder of purine metabolism associated with hyperuricaemia and hyperuricosuria and comprised of two forms: an early-onset severe form characterised by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424688017 Phosphoribosylpyrophosphate synthetase superactivity (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424689013 Phosphoribosylpyrophosphate synthetase superactivity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424690016 Phosphoribosyl pyrophosphate synthetase superactivity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424691017 An X-linked disorder of purine metabolism comprised of two forms: an early-onset severe form with characteristics of gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).The disease is due to overactivity of ribose-phosphate pyrophosphokinase 1 (PRS-I), an enzyme involved in the synthesis of PRPP, a cofactor involved in the synthesis of purine and pyrimidine nucleotides. PRS-I overactivity results in the overproduction of purine nucleotides and uric acid. In the severe form, PRS-I overactivity is due to gain-of-function point mutations in the open reading frame of the PRSP1 gene (Xq22.3) encoding PRS-I, that lead to defective allosteric control of PRS-I isoform activity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403077011 A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403078018 A rare X-linked disorder of purine metabolism associated with hyperuricaemia and hyperuricosuria and comprised of two forms: an early-onset severe form characterised by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3436451001000112 Phosphoribosylpyrophosphat-Synthetase-Überaktivität de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944681000172117 activité accrue de la PRPP synthétase fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
988681000172116 hyperactivité de la phosphoribosylpyrophosphate synthétase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944681000172117 activité accrue de la PRPP synthétase fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
988681000172116 hyperactivité de la phosphoribosylpyrophosphate synthétase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3436451001000112 Phosphoribosylpyrophosphat-Synthetase-Überaktivität de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Is a Disorder of purine metabolism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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