ORPHA:331240
Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
- 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
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells | |
| fr | Déficit immunitaire avec diminution sévère des IgG et IgA et taux normal ou élevé d'IgM avec nombre normal de cellules B | Immunodéficience avec diminution sévère des IgG et IgA et taux normal ou élevé d'IgM avec nombre normal de cellules B |
| de | Immundefekt mit starker Reduktion von Serum-IgG und Serum-IgA bei normalem/erhöhtem IgM-Level und normaler Anzahl B-Zellen | |
| es | Inmunodeficiencia con reducción grave de IgG e IgA en suero con IgM normal/elevado y número normal de células B | |
| it | Immunodeficienza con grave riduzione di IgG e IgA nel siero associata a IgM normali/elevate e un numero normale di cellule B | |
| nl | Immuundeficiëntie met ernstige reductie in IgG- en IgA-serum met normale/verhooge IgM en normaal aantal B-cellen | |
| pt | Imunodeficiência com redução severa de IgG e IgA sérica com IgM normal/elevada e número normal de células B | |
| pl | Niedobór odporności z ciężkim obniżeniem osoczowych IgG i IgA i prawidłowym/podniesionym poziomem IgM oraz prawidłową liczbą komórek B | |
| cs | Imunodeficience s těžkým snížením IgG a IgA, s normálním/zvýšeným IgM a normálním počtem B-buněk | |
| uk | Імунодефіцит з вираженим зниженням сироваткових IgG та IgA з нормальним/підвищеним рівнем IgM та нормальною кількістю В-клітин | |
| zh | 免疫缺陷伴血清极低IgG和IgA、正常/升高IgM及正常B细胞数量 | |
| tr | Normal/yüksek IgM ve normal sayıda B hücresi ile serum IgG ve IgA'da ağır azalma ile seyreden immün yetmezlik |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 4A01.05 | E | specific | validated |
| MONDO | 18040 | E | validated | |
| UMLS | C5680941 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:101977Immunodeficiency due to predominantly antibodies defect
rare genetic diseases; rare immunological diseases - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders
Codes that Orphanet moved or referred to this one:
- ORPHA:101982OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/331240
- This record as JSON: /data/d/331240.json