ORPHA:619249
Rare hereditary connective tissue 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
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare hereditary connective tissue disease | |
| fr | Maladie héréditaire rare du tissu conjonctif | |
| de | Seltene hereditäre Erkrankung des Bindegewebes | |
| es | Enfermedad del tejido conjuntivo hereditaria rara | |
| it | Malattia ereditaria rara del tessuto connettivo | |
| nl | Zeldzame hereditaire aandoening van bindweefsel | Zeldzame erfelijke aandoening van bindweefsel |
| pt | Doença do tecido conjuntivo hereditária rara | |
| pl | Rzadka dziedziczna choroba tkanki łącznej | |
| cs | Vzácné dědičné onemocnění pojivové tkáně | |
| uk | Рідкісне спадкове захворювання сполучної тканини |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681831 | 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:271870Rare genetic systemic or rheumatologic disease
rare genetic diseases
Children (6):
- ORPHA:300284Connective tissue disorder due to lysyl hydroxylase-3 deficiency
- ORPHA:98249Ehlers-Danlos syndrome
- ORPHA:230857Ehlers-Danlos/osteogenesis imperfecta syndrome
- ORPHA:697101Fontaine progeroid syndrome
- ORPHA:238569Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
- ORPHA:284993Marfan syndrome and Marfan-related disorders
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/619249
- This record as JSON: /data/d/619249.json