ORPHA:331217
Syndrome with combined immunodeficiency
- 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 | Syndrome with combined immunodeficiency | |
| fr | Syndrome avec déficit immunitaire combiné | Syndrome avec immunodéficience combinée |
| de | Syndrome mit kombiniertem Immundefekt | |
| es | Síndrome con inmunodeficiencia combinada | |
| it | Sindrome con immunodeficienza combinata | |
| nl | Syndroom met gecombineerde immuundeficiëntie | |
| pt | Outra síndrome de imunodeficiência devido a defeitos na imunidade adaptativa | |
| pl | Zespół ze złożonym niedoborem odporności | |
| cs | Syndromy s kombinovanou imunodeficiencí | |
| uk | Синдром з комбінованим імунодефіцитом | |
| zh | 联合免疫缺陷综合征 | |
| tr | Kombine immün yetmezliği ile seyreden sendrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18035 | E | validated | |
| UMLS | C2711630 | 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:179006Primary immunodeficiency due to a defect in adaptive immunity
rare genetic diseases; rare immunological diseases
Children (28):
- ORPHA:2951Absent thumb-short stature-immunodeficiency syndrome
- ORPHA:329173Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- ORPHA:169090Combined immunodeficiency due to CRAC channel dysfunction
- ORPHA:697385Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency
- ORPHA:436252Combined immunodeficiency-multiple intestinal atresia
- ORPHA:714493Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency
- ORPHA:169346DNA repair defect other than combined T-cell and B-cell immunodeficiencies
- ORPHA:619979Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
- ORPHA:1775Dyskeratosis congenita
- ORPHA:352712Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
- ORPHA:2136Hennekam syndrome
- ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome
- ORPHA:90045Hereditary folate malabsorption
- ORPHA:3322Hoyeraal-Hreidarsson syndrome
- ORPHA:331223Hyper-IgE syndrome
- ORPHA:98813Hypohidrotic ectodermal dysplasia with immunodeficiency
- ORPHA:69088Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
- ORPHA:699599ICHAD syndrome
- ORPHA:730318ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome
- ORPHA:169349Immuno-osseous dysplasia
- ORPHA:220465Laron syndrome with immunodeficiency
- ORPHA:661412Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
- ORPHA:718037Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency
- ORPHA:477814Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- ORPHA:331220Syndome with combined immunodeficiency due to thymic defect
- ORPHA:859Transcobalamin II deficiency
- ORPHA:1493Vici syndrome
- ORPHA:906Wiskott-Aldrich syndrome
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/331217
- This record as JSON: /data/d/331217.json