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60743005: Purine-nucleoside phosphorylase deficiency (disorder)

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

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Purine-nucleoside phosphorylase deficiency Is a Enzymopathy true Inferred relationship Existential restriction modifier
Purine-nucleoside phosphorylase deficiency Is a Disorder of purine metabolism true Inferred relationship Existential restriction modifier
Purine-nucleoside phosphorylase deficiency Is a Hereditary disorder of immune system false Inferred relationship Existential restriction modifier
Purine-nucleoside phosphorylase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Purine-nucleoside phosphorylase deficiency Is a Congenital immunodeficiency disease true Inferred relationship Existential restriction modifier
Purine-nucleoside phosphorylase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Purine-nucleoside phosphorylase deficiency Finding site Structure of immune system false Inferred relationship Existential restriction modifier
Purine-nucleoside phosphorylase deficiency Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier
Purine-nucleoside phosphorylase deficiency Pathological process Abnormal immune process true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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