ORPHA:269206

Isolated total cerebellar vermis agenesis

This disease is described under Isolated cerebellar vermis agenesis

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Isolated total cerebellar vermis agenesis
fr	Agénésie complète isolée du vermis cérébelleux	Agénésie totale isolée du vermis cérébelleux
de	Isolierte totale Agenesie des Kleinhirnwurmes
es	Agenesia aislada total del vermis cerebeloso
it	Agenesia completa isolata del verme cerebellare
nl	Geïsoleerde totale cerebellaire vermis-agenesie
pt	Agenesia do vermis cerebeloso total isolada
pl	Izolowana całkowita agnezja robaka móżdżku
cs	Izolovaná totální ageneze mozečkové vermis	Izolovaná totální ageneze vermis mozečku
uk	Ізольована тотальна агенезія червяка мозочка
zh	孤立性全小脑蚓部发育不全
tr	İzole total serebellar vermis agenezisi

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q04.3	NTBT	attributed	validated
MONDO	0017108	E		validated
UMLS	C5680781	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:269203Isolated cerebellar vermis agenesis
rare developmental anomalies during embryogenesis; rare neurological diseases

No children.

0 direct

Orphanet records no gene directly on this code.

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

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

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