781386002: nudix-hydrolase-15-deficiëntie (aandoening)

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

\Laboratory test finding (finding)\Genetic finding\NUDT15 deficiency

\Procedure related finding\Evaluation finding\Genetic finding\NUDT15 deficiency

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\NUDT15 deficiency
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\NUDT15 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3746928018 Deficiency of nudix hydrolase 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3746929014 Thiopurine poor metaboliser 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3746930016 NUDT15 deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3746931017 Thiopurine poor metabolizer 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3746932012 Deficiency of nudix hydrolase 15 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3746933019 Nucleotide diphosphatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6010181000146112 nudix-hydrolase-15-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6010191000146114 nudix-hydrolase-15-deficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6010201000146111 deficiëntie van nudix-hydrolase 15 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
NUDT15 deficiency	Is a	Genetic finding	true	Inferred relationship	Some
NUDT15 deficiency	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
NUDT15 deficiency	Interprets	Genetic test (procedure)	true	Inferred relationship	Some	1
NUDT15 deficiency	Is a	Disorder of purine metabolism	true	Inferred relationship	Some
NUDT15 deficiency	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets