ORPHA:477794
Syndromic constitutional thrombocytopenia
- 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 | Syndromic constitutional thrombocytopenia | |
| fr | Thrombocytopénie constitutionnelle syndromique | |
| de | Konstitutionelle Thrombozytopenie, syndromale | |
| es | Trombocitopenia constitucional sindrómica | |
| it | Trombocitopenia costituzionale sindromica | |
| nl | Syndromale constitutionele trombocytopenie | |
| pt | Trombocitopenia constitucional sindromática | |
| pl | Syndromiczna małopłytkowość konstytucyjna | |
| cs | Syndromická konstituční trombocytopenie | |
| uk | Синдромна конституціональна тромбоцитопенія | |
| zh | 综合征性全身性血小板减少 | |
| tr | Sendromik yapısal trombositopeni |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018795 | E | validated | |
| MONDO | 18795 | E | validated | |
| UMLS | C5681257 | 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:275729Rare hemorrhagic disorder due to a constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
Children (18):
- ORPHA:26132321q22.11q22.12 microdeletion syndrome
- ORPHA:674653Actinomyopathy-associated syndromic thrombocytopenia
- ORPHA:734Alpha delta granule deficiency
- ORPHA:728467Congenital macrothrombocytopenia with focal myelofibrosis
- ORPHA:714493Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency
- ORPHA:494444DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
- ORPHA:98456Dense granule disease
- ORPHA:602GNE myopathy
- ORPHA:480851Hereditary thrombocytopenia with early-onset myelofibrosis
- ORPHA:714496Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome
- ORPHA:2308Jacobsen syndrome
- ORPHA:182050MYH9-related syndromic thrombocytopenia
- ORPHA:220448Macrothrombocytopenia with mitral valve insufficiency
- ORPHA:652522Periodic fever-immunodeficiency-thrombocytopenia syndrome
- ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- ORPHA:3204Stormorken-Sjaastad-Langslet syndrome
- ORPHA:487796Takenouchi-Kosaki syndrome
- ORPHA:3320Thrombocytopenia-absent radius syndrome
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/477794
- This record as JSON: /data/d/477794.json