ORPHA:480549
Non-severe combined immunodeficiency
Synonyms: Non-SCID
- Type
- Clinical group
- 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 | Non-severe combined immunodeficiency | Non-SCID |
| fr | Déficit immunitaire combiné non-sévère | Immunodéficience combinée non sévère · Non-SCID |
| de | Immundefekt, kombinierter nicht-schwerer | = en |
| es | Inmunodeficiencia combinada no grave | No IDCG · No SCID |
| it | Immunodeficienza combinata non grave | |
| nl | Niet-ernstige gecombineerde immuundeficiëntie | = en |
| pt | Imunodeficiência combinada não grave | |
| pl | Złożony niedobór odporności | = en |
| cs | Méně závažný kombinovaný imunodeficit | = en |
| uk | Нетяжкий комбінований імунодефіцит | = en |
| zh | 非严重联合免疫缺陷 | = en |
| tr | Ağır olmayan kombine immün yetmezlik | SCID olmayan |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18814 | E | validated | |
| UMLS | C5680098 | 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 (2):
- ORPHA:101972Combined T and B cell immunodeficiency
rare genetic diseases; rare immunological diseases - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders
Children (19):
- ORPHA:231154Atypical/leaky severe combined immunodeficiency due to partial RAG defect
- ORPHA:464336BENTA disease
- ORPHA:238505Combined immunodeficiency due to CD27 deficiency
- ORPHA:676039Combined immunodeficiency due to FOXN1 haploinsufficiency
- ORPHA:157949Combined immunodeficiency with granulomas and/or autoimmunity due to RAG defect
- ORPHA:695164Combined immunodeficiency with low B cells and hypogammaglobulinemia
- ORPHA:718053Combined immunodeficiency with low CD4 and normal CD8
- ORPHA:718072Combined immunodeficiency with low CD8 and normal CD4
- ORPHA:688571Combined immunodeficiency with low immunoglobulins and normal B cells
- ORPHA:718079Combined immunodeficiency with normal B cells and normal immunoglubulins
- ORPHA:688563Combined immunodeficiency with normal Ig and poor specific antibody response
- ORPHA:542301EBV-induced lymphoproliferative disease due to CARMIL2 deficiency
- ORPHA:538958EBV-induced lymphoproliferative disease due to CD70 deficiency
- ORPHA:228000Idiopathic CD4 lymphocytopenia
- ORPHA:760Purine nucleoside phosphorylase deficiency
- ORPHA:596759RELA haploinsufficiency-associated inflammatory disease
- ORPHA:445018Syndromic autoimmune enteropathy due to LRBA deficiency
- ORPHA:653751X-linked combined immunodeficiency due to SASH3 deficiency
- ORPHA:317476XMEN
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/480549
- This record as JSON: /data/d/480549.json