raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:183681

Congenital functional phagocyte defect

Synonyms: Constitutional functional phagocyte defect · Congenital functional defect of phagocyte

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
enCongenital functional phagocyte defectConstitutional functional phagocyte defect · Congenital functional defect of phagocyte
frDéficit fonctionnel congénital des phagocytesDéficit fonctionnel constitutionnel des phagocytes
dePhagozytendefekt, funktioneller kongenitalerAngeborene Funktionsstörung der Phagozyten · Konstitutioneller funktioneller Phagozytendefekt
esDefecto funcional congénito de los fagocitosDefecto funcional constitucional de los fagocitos
itDifetto funzionale congenito dei fagocitiDifetto funzionale congenito dei fagociti · Difetto funzionale costituzionale dei fagociti
nlCongenitaal functioneel defect van fagocytConstitutioneel functioneel defect van fagocyt
ptDeficiência funcional fagocítica congénitaDeficiência constitucional dos fagócitos congénita · Deficiência funcional dos fagócitos congénita
plWrodzony funkcjonalny defekt fagocytów= en
csFunkční poruchy polymorfonukleárních neutrofilůFunkční poruchy polymorfonukleárních granulocytů
ukВроджений функціональний дефект фагоцитівВроджений функціональний дефект фагоцитів · Конституційний функціональний дефект фагоцитів
zh功能性中性粒细胞缺陷
trFonksiyonel nötrofil defekti
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-114A00.0Especificvalidated
MONDO0015978Evalidated
MONDO15978Evalidated
UMLSC5924997Evalidated

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

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