FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

32612005: Disorder of purine metabolism (disorder)

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
54443017 Disorder of purine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
763917013 Disorder of purine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
54443017 Disorder of purine metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
54443017 Disorder of purine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
763917013 Disorder of purine metabolism (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
763917013 Disorder of purine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3394881001000112 Purin-Stoffwechselstörung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
303011000077113 troubles du métabolisme des purines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
893781000172114 trouble du métabolisme de la purine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
303011000077113 troubles du métabolisme des purines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
893781000172114 trouble du métabolisme de la purine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3394881001000112 Purin-Stoffwechselstörung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

198 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of purine metabolism (disorder) Is a Disorder of purine and pyrimidine metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of purine metabolism (disorder) Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of purine metabolism (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Inosine triphosphate pyrophosphohydrolase deficiency Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thiopurine methyltransferase deficiency Is a False Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of AMP pyrophorylase Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Adenylosuccinate lyase deficiency Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperuricuria Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ribose-phosphate pyrophosphokinase overactivity Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Adenosine deaminase deficiency Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypouricemia Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Increased uric acid level Is a False Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary xanthinuria (disorder) Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Purine-nucleoside phosphorylase deficiency Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Uric acid level below reference range (finding) Is a False Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Gout Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Muscle adenosine monophosphate deaminase deficiency (disorder) Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperuricemia Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
5-amino-4-imidazole carboxamide ribosiduria (disorder) Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
NUDT15 deficiency Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chronic tophaceous gout (disorder) Is a False Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Is a True Disorder of purine metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start