ORPHA:250811
Serpinopathy with loss of serpin function
- 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 | Serpinopathy with loss of serpin function | |
| fr | Serpinopathie avec perte de fonction | |
| de | Serpinopathie mit Verlust der Serpin-Funktion | |
| es | Serpinopatía con pérdida de función de la serpina | |
| it | Serpinopatia con perdita di funzione della serpina | |
| nl | Serpinopathie met verlies van serpinefunctie | |
| pt | Serpinopatia com perda da função da serpina | |
| pl | Serpinopatia z utratą funkcji serpiny | |
| cs | Serpinopatie se ztrátou funkce serpinu | |
| uk | Серпінопатія з втратою функції серпіну | |
| zh | 丝氨酸蛋白酶抑制剂病变伴丝氨酸蛋白酶抑制剂功能障碍 | |
| tr | Serpin fonksiyon kaybı ile seyreden serpinopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680705 | 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:250805Serpinopathy
rare genetic diseases
Children (6):
- ORPHA:79Congenital alpha2-antiplasmin deficiency
- ORPHA:199247Corticosteroid-binding globulin deficiency
- ORPHA:289586Exfoliative ichthyosis
- ORPHA:528623Hereditary angioedema with C1Inh deficiency
- ORPHA:82Hereditary thrombophilia due to congenital antithrombin deficiency
- ORPHA:140966Palmoplantar keratoderma, Nagashima type
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/250811
- This record as JSON: /data/d/250811.json