ORPHA:439849
Autosomal recessive severe congenital neutropenia
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- 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 | Autosomal recessive severe congenital neutropenia | |
| fr | Neutropénie congénitale sévère autosomique récessive | |
| de | Neutropenie, kongenitale schwere, autosomal-rezessive | |
| es | Neutropenia congénita grave autosómica recesiva | |
| it | Neutropenia congenita grave autosomica recessiva | |
| nl | Autosomaal recessieve ernstige congenitale neutropenie | |
| pt | Neutropenia congénita grave autossómica recessiva | |
| pl | Autosomalna recesywna ciężka wrodzona neutropenia | |
| cs | Autozomálně recesivní těžká vrozená neutropenie | |
| uk | Аутосомно-рецесивна тяжка вроджена нейтропенія | |
| zh | 常染色体隐性遗传性严重先天性中性粒细胞减少 | |
| tr | Otozomal resesif ağır doğumsal nötropeni |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0028226 | E | validated | |
| UMLS | C5447331 | 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:42738Severe congenital neutropenia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
Children (5):
- ORPHA:420702Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- ORPHA:420699Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
- ORPHA:99749Kostmann syndrome
- ORPHA:331176Severe congenital neutropenia due to G6PC3 deficiency
- ORPHA:423384Severe congenital neutropenia due to JAGN1 deficiency
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/439849
- This record as JSON: /data/d/439849.json