raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:79158

Cerebral organic aciduria

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enCerebral organic aciduria
frAcidurie organique cérébrale
deOrganoazidopathie, zerebrale
esAciduria orgánica cerebral
itAciduria organica cerebrale
nlCerebrale organische acidurieCerebrale organoacidurie
ptClasse das acidúrias orgânicas ''cerebrais''
plMózgowa acyduria metaboliczna
csCerebrální organická acidurie
ukЦеребральна органічна ацидурія
zh脑型有机酸尿症
trSerebral organik asidüri
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-115C50.E1Especificvalidated
MONDO19213Evalidated
UMLSC5681292Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (5):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyNot yet validatedORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card