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723454008: Phosphoribosylpyrophosphate synthetase superactivity (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Phosphoribosylpyrophosphate synthetase superactivity
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Phosphoribosylpyrophosphate synthetase superactivity
\Functional finding\Intelligence finding\Finding of intellectual ability\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\Disorder of purine and pyrimidine metabolism\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3424688017 Phosphoribosylpyrophosphate synthetase superactivity (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3424689013 Phosphoribosylpyrophosphate synthetase superactivity en Synonym Active Entire term case insensitive SNOMED CT core module

3424690016 Phosphoribosyl pyrophosphate synthetase superactivity en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Phosphoribosylpyrophosphate synthetase superactivity	Is a	Disorder of purine metabolism	true	Inferred relationship	Existential restriction modifier
Phosphoribosylpyrophosphate synthetase superactivity	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Phosphoribosylpyrophosphate synthetase superactivity	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Phosphoribosylpyrophosphate synthetase superactivity	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Phosphoribosylpyrophosphate synthetase superactivity	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Phosphoribosylpyrophosphate synthetase superactivity	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Phosphoribosylpyrophosphate synthetase superactivity	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
Phosphoribosylpyrophosphate synthetase superactivity	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	2
Phosphoribosylpyrophosphate synthetase superactivity	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
Phosphoribosylpyrophosphate synthetase superactivity	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	3
Phosphoribosylpyrophosphate synthetase superactivity	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	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	SNOMED CT core module
3424689013	Phosphoribosylpyrophosphate synthetase superactivity	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3424690016	Phosphoribosyl pyrophosphate synthetase superactivity	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module