raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:101988

Primary immunodeficiency due to a defect in innate immunity

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
enPrimary immunodeficiency due to a defect in innate immunity
frDéficit immunitaire primaire par défaut de l'immunité innéeImmunodéficience primaire par défaut de l'immunité innée
dePrimärer Immundefekt durch Anomalie des angeborenen Immunsystems
esInmunodeficiencia primaria por un defecto en la inmunidad innata
itImmunodeficienza primitiva da difetto dell'immunità innata
nlPrimaire immuundeficiëntie door defect van aangeboren immuniteit
ptImunodeficiência primária devida a anomalia da imunidade inata
plPierwotny Niedobór odporności z powodu defektu odporności wrodzonej
csPrimární imunodeficience způsobená defektem přirozené imunity
ukПервинний імунодефіцит внаслідок дефекту вродженого імунітету
zh先天性免疫缺陷所致原发性免疫缺陷
trDoğumsal bağışıklıktaki bir defekte bağlı primer immün yetmezlik
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-114A00Especificvalidated
MONDO15135Evalidated
UMLSC5681778Evalidated
GARD19810Evalidated

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):

Children (6):

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