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60743005: Purine-nucleoside phosphorylase deficiency (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

100930014 Purine-nucleoside phosphorylase deficiency en Synonym Active Case insensitive SNOMED CT core

100931013 PNP deficiency en Synonym Active Case sensitive SNOMED CT core

100932018 NP deficiency en Synonym Active Case sensitive SNOMED CT core

100933011 Nucleoside phosphorylase deficiency en Synonym Active Case insensitive SNOMED CT core

198990011 Purine nucleoside phosphorylase deficiency en Synonym Active Case insensitive SNOMED CT core

498839011 PNP - Purine nucleoside phosphorylase deficiency en Synonym Active Case sensitive SNOMED CT core

498840013 Deficiency of purine-nucleoside phosphorylase en Synonym Active Case insensitive SNOMED CT core

498841012 NP - Nucleoside phosphorylase deficiency en Synonym Active Case sensitive SNOMED CT core

498842017 Deficiency of inosine phosphorylase en Synonym Active Case insensitive SNOMED CT core

799729013 Purine-nucleoside phosphorylase deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Purine-nucleoside phosphorylase deficiency	Pathological process	Abnormal immune process	true	Inferred relationship	Some	2
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	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Purine-nucleoside phosphorylase deficiency	Finding site	Structure of immune system	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

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