60743005: Purine-nucleoside phosphorylase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

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

\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Purine-nucleoside phosphorylase deficiency

\trouble métabolique\Disorder of purine and pyrimidine metabolism\troubles du métabolisme des purines\Purine-nucleoside phosphorylase deficiency
\trouble métabolique\Enzymopathy\Purine-nucleoside phosphorylase deficiency

\Congenital disease\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

1015041000172115 déficit en PNP (purine nucléoside phosphorylase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

448411000241111 déficit en purine nucléoside phosphorylase (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

958881000172111 déficit en purine nucléoside phosphorylase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Purine-nucleoside phosphorylase deficiency	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
Purine-nucleoside phosphorylase deficiency	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	est un(e) (attribut)	troubles du métabolisme des purines	true	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	est un(e) (attribut)	Hereditary disorder of immune system	false	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	est un(e) (attribut)	Congenital immunodeficiency disease	true	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Purine-nucleoside phosphorylase deficiency	localisation d'une constatation (attribut)	structure du système immunitaire	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets