ORPHA:229720
Syndromic 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| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic agammaglobulinemia | |
| fr | Agammaglobulinémie syndromique | |
| de | Agammaglobulinämie, syndromale | |
| es | Agammaglobulinemia sindrómica | |
| it | Agammaglobulinemia sindromica | |
| nl | Syndromale agammaglobulinemie | |
| pt | Agamaglobulinemia sindromática | |
| pl | Agammaglobulinemia syndromiczna | |
| cs | Syndromická agamaglobulinémie | |
| uk | Синдромна агаммаглобулінемія | |
| zh | 综合征性无丙种球蛋白血症 | |
| tr | Sendromik agamaglobulinemi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016463 | E | validated | |
| MONDO | 16463 | E | validated | |
| UMLS | C5680904 | 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:183669Agammaglobulinemia
rare genetic diseases; rare immunological diseases
Children (5):
- ORPHA:693647Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome
- ORPHA:83617Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- ORPHA:693627Agammaglobulinemia-skin involvement-failure to thrive syndrome
- ORPHA:567502B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
- ORPHA:632Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
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/229720
- This record as JSON: /data/d/229720.json