ORPHA:101987
Congenital neutropenia
Synonyms: Constitutional neutropenia
- Type
- Category
- Group
- Group of disorders
- Status
- active
A rare group of genetic primary immunodeficiencies characterized by impaired neutrophil maturation or function. Neutropenia ranges from mild to severe and may be cyclic, isolated, or syndromic. It is defined by a triad of severe infections, diverse comorbidities, and/or increased leukemic risk, with severity and frequency determined by the underlying gene defect.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital neutropenia | Constitutional neutropenia |
| fr | Neutropénie congénitale | Neutropénie constitutionnelle |
| de | Neutropenie, kongenitale | Konstitutionelle Neutropenie |
| es | Neutropenia congénita | Neutropenia constitucional |
| it | Neutropenia congenita | Neutropenia costituzionale |
| nl | Congenitale neutropenie | Constitutionele neutropenie |
| pt | Neutropenia congénita | Neutropenia constitucional |
| pl | Wrodzona neutropenia | = en |
| cs | Konstituční neutropenie | = en |
| uk | Вроджена нейтропенія | Конституційна нейтропенія |
| zh | 体质性中性粒细胞减少症 | |
| tr | Yapısal nötropeni |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D70 | E | specific | validated |
| ICD-11 | 4B00.00 | E | specific | validated |
| MONDO | 0015134 | E | validated | |
| MONDO | 15134 | E | validated | |
| UMLS | C3805116 | E | validated | |
| GARD | 19809 | 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:101985Quantitative and/or qualitative congenital phagocyte defect
rare genetic diseases; rare immunological diseases - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders
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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/101987
- This record as JSON: /data/d/101987.json