723454008: Phosphoribosylpyrophosphate synthetase superactivity (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Phosphoribosylpyrophosphate synthetase superactivity (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Phosphoribosylpyrophosphate synthetase superactivity (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Phosphoribosylpyrophosphate synthetase superactivity (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Phosphoribosylpyrophosphate synthetase superactivity (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Phosphoribosylpyrophosphate synthetase superactivity (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Phosphoribosylpyrophosphate synthetase superactivity (disorder)
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\Phosphoribosylpyrophosphate synthetase superactivity (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Phosphoribosylpyrophosphate synthetase superactivity (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\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

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

944681000172117 activité accrue de la PRPP synthétase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

988681000172116 hyperactivité de la phosphoribosylpyrophosphate synthétase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

945341000172117 hyperactiviteit van PRPP (hosphoribosylpyrophosphate)-synthetase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1002981000172118 fosforibosylpyrofosfaatsynthetase-superactiviteit nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Is a	Disorder of purine metabolism	true	Inferred relationship	Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Is a	retard mental	false	Inferred relationship	Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
944681000172117	activité accrue de la PRPP synthétase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
988681000172116	hyperactivité de la phosphoribosylpyrophosphate synthétase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
945341000172117	hyperactiviteit van PRPP (hosphoribosylpyrophosphate)-synthetase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1002981000172118	fosforibosylpyrofosfaatsynthetase-superactiviteit	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)