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60743005: Purine-nucleoside phosphorylase deficiency (disorder)


Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
100930014 Purine-nucleoside phosphorylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
100931013 PNP deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
100932018 NP deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
100933011 Nucleoside phosphorylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
198990011 Purine nucleoside phosphorylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
498839011 PNP - Purine nucleoside phosphorylase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
498840013 Deficiency of purine-nucleoside phosphorylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
498841012 NP - Nucleoside phosphorylase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
498842017 Deficiency of inosine phosphorylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
799729013 Purine-nucleoside phosphorylase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

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
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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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