raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:269209

Isolated partial cerebellar vermis agenesis

Type
Clinical subtype
Group
Subtype of disorder
Status
active

This disease is described under Isolated cerebellar vermis agenesis

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enIsolated partial cerebellar vermis agenesis
frAgénésie isolée partielle du vermis cérébelleux
deIsolierte partielle Agenesie des Kleinhirnwurmes
esAgenesia aislada parcial del vermis cerebeloso
itAgenesia parziale isolata del verme cerebellare
nlGeïsoleerde partiële cerebellaire vermis-agenesie
ptAgenesia do vermis cerebeloso parcial isolada
plIzolowana częściowa agnezja robaka móżdżku
csIzolovaná parciální ageneze mozečkové vermisIzolovaná parciální ageneze vermis mozečku
ukІзольована часткова агенезія червяка мозочка
zh孤立性部分小脑蚓部发育不全
trİzole kısmi serebellar vermis agenezisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q04.3NTBTattributedvalidated
MONDO0017109Evalidated
UMLSC5680780Evalidated

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

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

7

Sources for this card