60743005: Purine-nucleoside phosphorylase deficiency (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Purine-nucleoside phosphorylase deficiency

\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Purine-nucleoside phosphorylase deficiency

\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\Purine-nucleoside phosphorylase deficiency
\Metabolic disease\Enzymopathy\Purine-nucleoside phosphorylase deficiency

\Congenital disease (disorder)\Congenital immunodeficiency disease\Purine-nucleoside phosphorylase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

100930014 Purine-nucleoside phosphorylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

100931013 PNP deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

100932018 NP deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

100933011 Nucleoside phosphorylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

198990011 Purine nucleoside phosphorylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

498839011 PNP - Purine nucleoside phosphorylase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

498840013 Deficiency of purine-nucleoside phosphorylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

498841012 NP - Nucleoside phosphorylase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

498842017 Deficiency of inosine phosphorylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

799729013 Purine-nucleoside phosphorylase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

363811000052115 purinnukleosidfosforylasbrist sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Purine-nucleoside phosphorylase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Is a	Disorder of purine metabolism	true	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Is a	Hereditary disorder of immune system	false	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Purine-nucleoside phosphorylase deficiency	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets