raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:488

Urachal cyst

Type
Morphological anomaly
Group
Disorder
Inheritance
Not applicable
Age of onset
Infancy, Neonatal
Status
active

Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enUrachal cyst
frKyste de l'ouraqueKyste ouraquien
deUrachuszyste
esQuiste uracal
itCisti dell'uraco
nlUrachuscyste
ptQuísto do úraco
plTorbiel moczownika
csCysta urachu
ukКіста сечового міхура
zh脐尿管囊肿
trUraki kisti

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q64.4NTBTinclusionvalidated
ICD-11LB03.0NTBTindexvalidated
MONDO0018844Evalidated
MeSHD014496Evalidated
UMLSC0041915Evalidated
GARD5425Evalidated
MedDRA10065375Evalidated

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):

No children.

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

16 annotations · validated 2021-08-31
HPOTerm (as annotated by Orphanet)Diagnostic
Occasional (29-5%)
HP:0002027Abdominal pain
HP:0025615Abscess
HP:0025143Chills
HP:0100518Dysuria
HP:0011227Elevated circulating C-reactive protein concentration
HP:0001945Fever
HP:0000790Hematuria
HP:0001974Increased total leukocyte count
HP:0012085Pyuria
HP:0032169Severe infection
HP:0100525Urachus fistula
Very rare (<4-1%)
HP:0031500Abdominal mass
HP:0010766Ectopic calcification
HP:0010783Erythema
HP:0002664Neoplasm
HP:0002586Peritonitis

Annotation source: 32347613[PMID]_33039342[PMID]_30271532[PMID]

7

Sources for this card