raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98650

Craniofacial anomaly with cataract

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enCraniofacial anomaly with cataract
frAnomalie craniofaciale avec cataracte
deKatarakt mit assoziierter kraniofazialer Anomalie
esEnfermedad craneofacial con una posible catarata
itCataratta associata a anomalia craniofacciale
nlCraniofaciale anomalie met cataract
ptCataratas associadas a anomalia craniofacial
plAnomalia czaszkowo-twarzowa z zaćmą
csKraniofaciální anomálie s kataraktou
ukЧерепно-лицьова аномалія з катарактою
zh颅面异常伴白内障
trKatarakt ile seyreden kraniyofasiyal anomali
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5681662Evalidated

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):

Children (5):

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