Code System Concept

Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Code System Concept

Code System Concept Code	77365006
Code System Concept Name	Dihydropyrimidine dehydrogenase deficiency (disorder)
Code System Preferred Concept Name	Dihydropyrimidine dehydrogenase deficiency (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	A rare disorder of pyrimidine metabolism with characteristics of a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behaviour, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
128409017	Dihydrouracil dehydrogenase (NADP^+^) deficiency	Active	Synonym	false	false
128410010	Dihydropyrimidine dehydrogenase deficiency	Active	Synonym	false	false
128411014	Dihydrothymine dehydrogenase deficiency	Active	Synonym	false	false
128412019	Sensitivity to fluorouracil toxicity	Active	Synonym	false	false
128413012	Hereditary thymine-uraciluria	Active	Synonym	false	false
128414018	Familial pyrimidinemia	Active	Synonym	false	false
128415017	DPD deficiency	Active	Synonym	false	false
2974381011	Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency	Active	Synonym	false	false
4964975018	DPD - dihydropyrimidine dehydrogenase deficiency	Active	Synonym	false	false
503535019	Dihydrouracil dehydrogenase (NADP) deficiency	Active	Synonym	false	false
503536018	Familial pyrimidinaemia	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Disorder of pyrimidine metabolism (disorder) {85444005 , SNOMED-CT } Enzymopathy (disorder) {78548001 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,