ORPHA:101997
Primary 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary immunodeficiency | |
| fr | Déficit immunitaire primaire | Immunodéficience primaire |
| de | Immundefekt, primärer | |
| es | Inmunodeficiencia primaria | |
| it | Immunodeficienza primitiva | |
| nl | Primaire immuundeficiëntie | |
| pt | Imunodeficiência primária | |
| pl | Pierwotny Niedobór odporności | |
| cs | Primární imunodeficience | |
| uk | Первинний імунодефіцит | |
| zh | 原发性免疫缺陷 | |
| tr | Primer immün yetmezlik |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 3778 | E | validated | |
| MeSH | D000081207 | E | validated | |
| UMLS | C0398686 | E | validated | |
| MedDRA | 10064859 | 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:183770Rare genetic immune disease
rare genetic diseases - ORPHA:98004Rare immune disease
rare immunological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:94061OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome referred to · inactive
- ORPHA:183716OBSOLETE: Other complex syndrome of primary immunodeficiency referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
14 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | 22288591[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.8 / 100 000 | Norway | Value and class | Validated | 11202238[PMID] |
| Point prevalence | 1-5 / 10 000 | 11 / 100 000 | France | Value and class | Validated | 28732644[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.6 / 100 000 | Spain | Value and class | Validated | 22288591[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.6 / 100 000 | Netherlands | Value and class | Validated | 22288591[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.84 / 100 000 | United Kingdom | Value and class | Validated | 22288591[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.79 / 100 000 | Italy | Value and class | Validated | 22288591[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.38 / 100 000 | Germany | Value and class | Validated | 22288591[PMID] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Turkey | Value and class | Validated | 22288591[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.33 / 100 000 | Poland | Value and class | Validated | 22288591[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.6 / 100 000 | Australia | Value and class | Not yet validated | 17588141[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.9 / 100 000 | New Zealand | Value and class | Validated | 17588141[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.1 / 100 000 | Korea, Republic of | Value and class | Validated | 22787376[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.5 / 100 000 | Oman | Value and class | Validated | 23268475[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/101997
- This record as JSON: /data/d/101997.json