raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:563954

Isolated congenital hypoglossia

Type
Clinical subtype
Group
Subtype of disorder
Status
active

This disease is described under Isolated congenital hypoglossia/aglossia

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enIsolated congenital hypoglossia
frHypoglossie isolée congénitale
deHypoglossie, isolierte, kongenitale
esHipoglosia congénita aislada
itIpoglossia congenita isolata
nlGeïsoleerde congenitale hypoglossie
ptHipoglossia congénita isolada
plIzolowana wrodzona hipoplazja języka
csIzolovaná vrozená hypoglosie
ukІзольована вроджена гіпоглосія
zh孤立性先天性 缺舌
trİzole doğumsal hipoglossi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q38.3NTBTinclusionvalidated
ICD-11LA31.1NTBTindexvalidated
MONDO0035411Evalidated
UMLSC0025988Evalidated

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

0 records

No prevalence record in this release.

6

HPO phenotypes

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

7

Sources for this card