raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:183669

Agammaglobulinemia

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
enAgammaglobulinemia
frAgammaglobulinémie
deAgammaglobulinämie
esAgammaglobulinemia
itAgammaglobulinemia
nlAgammaglobulinemie
ptAgamaglobulinemia
plAgammaglobulinemia
csAgamaglobulinémie
ukАгаммаглобулінемія
zh丙种球蛋白缺乏血症
trAgamaglobulinemi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0015977Evalidated
MONDO15977Evalidated
MeSHD000361Evalidated
UMLSC0001768Evalidated
MedDRA10001471Evalidated

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 (2):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

9 records
TypeClassValueAreaQualificationValidationSource
Point prevalence1-9 / 1 000 0000.13 / 100 000EuropeValue and classNot yet validatedORPHANET
Point prevalence1-9 / 1 000 0000.287 / 100 000FranceValue and classValidated22288591[PMID]
Point prevalence1-9 / 1 000 0000.134 / 100 000SpainValue and classValidated22288591[PMID]
Point prevalence1-9 / 1 000 0000.192 / 100 000NetherlandsValue and classValidated22288591[PMID]
Point prevalence<1 / 1 000 0000.045 / 100 000TurkeyValue and classValidated22288591[PMID]
Point prevalence<1 / 1 000 0000.094 / 100 000United KingdomValue and classValidated22288591[PMID]
Point prevalence1-9 / 1 000 0000.205 / 100 000ItalyValue and classValidated22288591[PMID]
Point prevalence<1 / 1 000 0000.077 / 100 000GermanyValue and classValidated22288591[PMID]
Point prevalence<1 / 1 000 0000.071 / 100 000PolandValue and classValidated22288591[PMID]

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