723454008: Phosphoribosylpyrophosphate synthetase superactivity (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Phosphoribosylpyrophosphate synthetase superactivity
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Phosphoribosylpyrophosphate synthetase superactivity
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Phosphoribosylpyrophosphate synthetase superactivity
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Phosphoribosylpyrophosphate synthetase superactivity
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Phosphoribosylpyrophosphate synthetase superactivity
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Phosphoribosylpyrophosphate synthetase superactivity
• \Disease\Metabolic disease\Purine and pyrimidine metabolism disorder\Disorder of purine metabolism\Phosphoribosylpyrophosphate synthetase superactivity
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Phosphoribosylpyrophosphate synthetase superactivity
• \Disease\Developmental disorder\Developmental hereditary disorder\Phosphoribosylpyrophosphate synthetase superactivity

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3424689013	Phosphoribosylpyrophosphate synthetase superactivity	en	Synonym	Active	Case insensitive	SNOMED CT core
3424690016	Phosphoribosyl pyrophosphate synthetase superactivity	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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