raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:228113

Anal fistula

Type
Particular clinical situation in a disease or syndrome
Group
Disorder
Inheritance
Not applicable
Age of onset
All ages
Status
active

A rare intestinal condition characterized by an abnormal communication between the lower rectum and the perianal skin, which usually develops after an acute perianal abscess. A fistulous traject may be established on either side of the anus (never in the midline) and mucous or fecal discharge can appear. The skin around the external orifice can be irritated. Males are more often affected than females.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAnal fistula
frFistule anale
deAnalfistel
esFístula anal
itFistola anale
nlAnale fistel
ptFístula anal
plPrzetoka odbytu
csAnální píštěl
ukАнальна нориця
zh肛瘘
trAnal fistül

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10K60.3Especificvalidated
ICD-11DB50.1Especificvalidated
MONDO0000754Evalidated
UMLSC0205929Evalidated
MedDRA10002156Evalidated

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 (2):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Point prevalence1-5 / 10 00018.3 / 100 000EuropeValue and classValidatedDOI:10.12998/wjcc.v7.i14.1795[OTHER]
Point prevalence1-5 / 10 00018 / 100 000United KingdomValue and classValidatedDOI:10.12998/wjcc.v7.i14.1795[OTHER]

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

7 annotations · validated 2023-08-18
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0005218Anoperineal fistula
Frequent (79-30%)
HP:0500005Anal pain
HP:0100658Cellulitis
HP:0000989Pruritus
Occasional (29-5%)
HP:0001974Increased total leukocyte count
Very rare (<4-1%)
HP:0025143Chills
HP:0001945Fever

Run the differential on the 1 obligate / very frequent terms

Annotation source: 20004071[PMID]_28620877[PMID]

7

Sources for this card