ORPHA:98369
Rare constitutional hemolytic anemia due to an enzyme disorder
- 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 constitutional hemolytic anemia due to an enzyme disorder | |
| fr | Anémie hémolytique constitutionnelle rare par anomalie enzymatique | |
| de | Seltene konstitutionelle hämolytische Anämie infolge einer Enzymstörung | |
| es | Anemia hemolítica constitucional rara por una anomalía enzimática | |
| it | Anemia emolitica costituzionale rara da deficit enzimatico | |
| nl | Zeldzame constitutionele hemolytische anemie als gevolg van een enzymstoornis | |
| pt | Anemia hemolítica genética por deficiência enzimática | |
| pl | Rzadka niedokrwistość hemolityczna konstytucjonalna z powodu zaburzeń enzymatycznych | |
| cs | Vzácná konstituční hemolytická anémie způsobená poruchou enzymu | |
| uk | Рідкісна конституціональна гемолітична анемія внаслідок ферментного розладу | |
| zh | 酶异常所致罕见原发性溶血性贫血 | |
| tr | Enzim bozukluğuna bağlı nadir yapısal hemolitik anemi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681715 | 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:182043Rare constitutional hemolytic anemia
rare genetic diseases; rare hematological diseases
Children (6):
- ORPHA:79278Autosomal erythropoietic protoporphyria
- ORPHA:79277Congenital erythropoietic porphyria
- ORPHA:659672Harderoporphyria
- ORPHA:98372Hemolytic anemia due to a disorder of glycolytic enzymes
- ORPHA:98374Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
- ORPHA:98370Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Codes that Orphanet moved or referred to this one:
- ORPHA:1044OBSOLETE: Anemia due to adenosine triphosphatase deficiency referred to · inactive
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98369
- This record as JSON: /data/d/98369.json