ORPHA:674896
Non-syndromic congenital phagocyte functional defect
Synonyms: Non-syndromic congenital functional defect of phagocytes · Non-syndromic constitutional functional phagocyte defect
- 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.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic congenital phagocyte functional defect | Non-syndromic congenital functional defect of phagocytes · Non-syndromic constitutional functional phagocyte defect |
| fr | Déficit fonctionnel congénital non-syndromique des phagocytes | Déficit fonctionnel constitutionnel non-syndromique des phagocytes |
| de | Nicht-syndromaler kongenitaler Phagozyten-Funktionsdefekt | Nicht-syndromale angeborene Funktionsstörung der Phagozyten · Nicht-syndromaler konstitutioneller funktioneller Phagozytendefekt |
| es | Defecto funcional congénito no sindrómico de los fagocitos | Defecto funcional constitucional no sindrómico de los fagocitos |
| it | Difetto funzionale congenito non sindromico dei fagociti | Difetto funzionale congenito non sindromico dei fagociti · Difetto funzionale costituzionale non sindromico dei fagociti |
| nl | Niet-syndromaal congenitaal functioneel defect van fagocyt | Niet-syndromaal constitutioneel functioneel defect van fagocyt |
| pt | Defeito funcional fagocítico congénito não-sindrómico | Defeito funcional congénito não-sindrómico dos fagócitos · Defeito funcional fagocítico constitucional não-sindrómico |
| pl | Niesyndromiczny wrodzony defekt czynnościowy fagocytów | = en |
| cs | Nesyndromický vrozený funkční defekt fagocytů | = en |
| uk | Несиндромальний вроджений функціональний дефект фагоцитів | Несиндромальний вроджений функціональний дефект фагоцитів · Несиндромальний конституціональний функціональний дефект фагоцитів |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5925091 | E | validated |
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):
- ORPHA:183681Congenital functional phagocyte defect
rare genetic diseases; rare immunological diseases
Children (6):
- ORPHA:379Chronic granulomatous disease
- ORPHA:619941Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
- ORPHA:228423GATA2 deficiency spectrum
- ORPHA:264675Hereditary pulmonary alveolar proteinosis
- ORPHA:183707Infantile LAD-like disease due to RAC2 deficiency
- ORPHA:2587Myeloperoxidase deficiency
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/674896
- This record as JSON: /data/d/674896.json