FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-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
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

199 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of purine metabolism Is a Disorder of purine and pyrimidine metabolism true Inferred relationship Some
Disorder of purine metabolism Finding site Body system structure false Inferred relationship Some
Disorder of purine metabolism Occurrence Congenital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Inosine triphosphate pyrophosphohydrolase deficiency Is a True Disorder of purine metabolism Inferred relationship Some
Thiopurine methyltransferase deficiency Is a False Disorder of purine metabolism Inferred relationship Some
Deficiency of AMP pyrophorylase Is a True Disorder of purine metabolism Inferred relationship Some
Adenylosuccinate lyase deficiency Is a True Disorder of purine metabolism Inferred relationship Some
Hyperuricuria Is a True Disorder of purine metabolism Inferred relationship Some
Ribose-phosphate pyrophosphokinase overactivity Is a True Disorder of purine metabolism Inferred relationship Some
Adenosine deaminase deficiency Is a True Disorder of purine metabolism Inferred relationship Some
Hypouricemia Is a True Disorder of purine metabolism Inferred relationship Some
Uric acid level above reference range (finding) Is a False Disorder of purine metabolism Inferred relationship Some
Hereditary xanthinuria Is a True Disorder of purine metabolism Inferred relationship Some
Purine-nucleoside phosphorylase deficiency Is a True Disorder of purine metabolism Inferred relationship Some
Uric acid level below reference range (finding) Is a False Disorder of purine metabolism Inferred relationship Some
A disease caused by monosodium urate crystal deposition with any of the following clinical presentations (current or prior): gout flare, chronic gouty arthritis, or subcutaneous tophus. Is a True Disorder of purine metabolism Inferred relationship Some
Muscle AMP deaminase deficiency Is a True Disorder of purine metabolism Inferred relationship Some
Hyperuricemia Is a True Disorder of purine metabolism Inferred relationship Some
A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement. Is a True Disorder of purine metabolism Inferred relationship Some
A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy. Is a True Disorder of purine metabolism Inferred relationship Some
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadriparesis, Leber congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal alpha-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. Is a True Disorder of purine metabolism Inferred relationship Some
NUDT15 deficiency Is a True Disorder of purine metabolism Inferred relationship Some
A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia. Is a True Disorder of purine metabolism Inferred relationship Some
Chronic tophaceous gout (disorder) Is a False Disorder of purine metabolism Inferred relationship Some
A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal. Is a True Disorder of purine metabolism Inferred relationship Some
A rare genetic haematologic disease characterised by mild chronic haemolytic anaemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinaemia. Other cells and tissues are not affected. Is a True Disorder of purine metabolism Inferred relationship Some

This concept is not in any reference sets

Back to Start