ORPHA:331184
Syndrome with congenital neutropenia as a major feature
Synonyms: Syndrome with constitutional neutropenia as a major feature · Syndrome with genetic neutropenia as a major feature
- 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 | Syndrome with congenital neutropenia as a major feature | Syndrome with constitutional neutropenia as a major feature · Syndrome with genetic neutropenia as a major feature |
| fr | Syndrome avec neutropénie congénitale comme manifestation majeure | Syndrome avec neutropénie constitutionnelle comme manifestation majeure · Syndrome avec neutropénie génétique comme manifestation majeure |
| de | Syndrom mit kongenitaler Neutropenie als Hauptmerkmal | Syndrom mit genetisch bedingter Neutropenie als Hauptmerkmal · Syndrom mit konstitutioneller Neutropenie als Hauptmerkmal |
| es | Síndrome con neutropenia congénita como característica principal | Síndrome con neutropenia constitucional como característica principal · Síndrome con neutropenia genética como característica principal |
| it | Sindrome con neutropenia congenita come caratteristica principale | Sindrome con neutropenia costituzionale come caratteristica principale · Sindrome con neutropenia genetica come caratteristica principale |
| nl | Syndroom met congenitale neutropenie als hoofdkenmerk | Syndroom met constitutionele neutropenie als hoofdkenmerk · Syndroom met genetische neutropenie als hoofdkenmerk |
| pt | Síndrome de neutropenia congénita como característica principal | Síndrome de neutropenia constitucional como característica principal · Síndrome de neutropenia genética como característica principal |
| pl | Zespół z wrodzoną neutropenią jako główną cechą | = en |
| cs | Konstituční neutropenie s extra-hematopoetickými projevy | = en |
| uk | Синдром з вродженою нейтропенією як основною ознакою | Синдром з конституціональною нейтропенією як основною ознакою · Синдром з генетичною нейтропенією як основною ознакою |
| zh | 体质性中性粒细胞减少症伴造血外表现 | |
| tr | Ekstra hematopoetik belirtiler ile seyreden yapısal nötropeni |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18032 | E | validated | |
| UMLS | C5925008 | 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 (1):
- ORPHA:101987Congenital neutropenia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
Children (18):
- ORPHA:4450383-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- ORPHA:693647Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome
- ORPHA:111Barth syndrome
- ORPHA:193Cohen syndrome
- ORPHA:369852Congenital neutropenia-myelofibrosis-nephromegaly syndrome
- ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- ORPHA:183678Hermansky-Pudlak syndrome due to AP-3 deficiency
- ORPHA:2390Lichtenstein syndrome
- ORPHA:2690Neutropenia-monocytopenia-deafness syndrome
- ORPHA:652522Periodic fever-immunodeficiency-thrombocytopenia syndrome
- ORPHA:221046Poikiloderma with neutropenia
- ORPHA:90023Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
- ORPHA:169142Recurrent infections due to specific granule deficiency
- ORPHA:331176Severe congenital neutropenia due to G6PC3 deficiency
- ORPHA:423384Severe congenital neutropenia due to JAGN1 deficiency
- ORPHA:675767Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency
- ORPHA:811Shwachman-Diamond syndrome
- ORPHA:675628TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
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Genes
0 directOrphanet records no gene directly on this code.
5
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/331184
- This record as JSON: /data/d/331184.json