ORPHA:158300
Rare genetic hematologic disease
- 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 | Rare genetic hematologic disease | |
| fr | Maladie hématologique génétique rare | |
| de | Hämatologische Krankheit, genetisch bedingte | |
| es | Enfermedades hematológicas genéticas raras | |
| it | Malattia ematologica genetica | |
| nl | Zeldzame genetische hematologische ziekte | |
| pt | Doença hematológica genética | |
| pl | Rzadka genetyczna choroba hematologiczna | |
| cs | Vzácná dědičná onemocnění krvetvorby | |
| uk | Рідкісне генетично обумовлене гематологічне захворювання | |
| zh | 罕见遗传性血液病 | |
| tr | Nadir görülen genetik hematolojik hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15549 | E | validated | |
| UMLS | C5680681 | 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:98053Rare genetic disease
rare genetic diseases
Children (9):
- ORPHA:621Autosomal recessive methemoglobinemia
- ORPHA:86816Congenital analbuminemia
- ORPHA:250165Genetic polycythemia
- ORPHA:330041Hemoglobin M disease
- ORPHA:619233Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
- ORPHA:440731L-ferritin deficiency
- ORPHA:447Paroxysmal nocturnal hemoglobinuria
- ORPHA:183651Rare constitutional anemia
- ORPHA:183654Rare genetic coagulation disorder
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/158300
- This record as JSON: /data/d/158300.json