781386002: Deficiency of nudix hydrolase 15 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Genetic finding\NUDT15 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\NUDT15 deficiency
• \Disease\Metabolic disease\Purine and pyrimidine metabolism disorder\Disorder of purine metabolism\NUDT15 deficiency

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3746928018	Deficiency of nudix hydrolase 15	en	Synonym	Active	Case insensitive	SNOMED CT core
3746929014	Thiopurine poor metaboliser 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3746930016	NUDT15 deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3746931017	Thiopurine poor metabolizer 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3746932012	Deficiency of nudix hydrolase 15 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3746933019	Nucleotide diphosphatase deficiency	en	Synonym	Active	Case insensitive	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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