ORPHA:98365
Hereditary stomatocytosis
Synonyms: Hereditary stomatocytic disease
- Type
- Clinical group
- 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 | Hereditary stomatocytosis | Hereditary stomatocytic disease |
| fr | Stomatocytose héréditaire | Maladie stomatocytique héréditaire |
| de | Stomatozytose, hereditäre | Hereditäre stomatozytische Krankheit |
| es | Estomatocitosis hereditaria | Enfermedad estomatocítica hereditaria |
| it | Stomatocitosi ereditaria | Malattia stomatocitica ereditaria |
| nl | Erfelijke stomatocytose | Erfelijke stomatocytische ziekte |
| pt | Estomatocitose | |
| pl | Stomatocytoza dziedziczna | Dziedziczna choroba stomatocytowa |
| cs | Hereditární stomatocytózy | Hereditární stomatocytické nemoci |
| uk | Спадковий стоматоцитоз | Спадкове стоматоцитарне захворювання |
| zh | 遗传性口形细胞增多症 | 遗传性口形细胞增多病 |
| tr | Kalıtsal stomatositoz | Kalıtsal stomatositik hastalık |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0020102 | E | validated | |
| UMLS | C1262483 | E | validated | |
| MedDRA | 10053589 | 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:98364Rare constitutional hemolytic anemia due to a red cell membrane anomaly
rare genetic diseases; rare hematological diseases
Children (7):
- ORPHA:3202Dehydrated hereditary stomatocytosis
- ORPHA:90044Familial pseudohyperkalemia
- ORPHA:398088Hereditary cryohydrocytosis with normal stomatin
- ORPHA:168577Hereditary cryohydrocytosis with reduced stomatin
- ORPHA:3203Overhydrated hereditary stomatocytosis
- ORPHA:71275Rh deficiency syndrome
- ORPHA:98868Southeast Asian ovalocytosis
Codes that Orphanet moved or referred to this one:
- ORPHA:99134OBSOLETE: Intermediate stomatocytosis syndrome referred to · inactive
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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/98365
- This record as JSON: /data/d/98365.json