ORPHA:228215
Genetic dermis elastic tissue 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 | Genetic dermis elastic tissue disorder | |
| fr | Anomalie génétique de l'élasticité du derme | |
| de | Genetischer Defekt des elastischen Hautgewebes | |
| es | Trastorno genético del tejido elástico de la dermis | |
| it | Anomalia genetica del tessuto elastico del derma | |
| nl | Genetische aandoening van elastisch huidweefsel | |
| pt | Doença do tecido elástico da derme, genética | |
| pl | Zaburzenie elastyczności skóry uwarunkowane genetycznie | |
| cs | Geneticky podmíněné poruchy elastické tkáně dermis | |
| uk | Генетично обумовлене порушення еластичної тканини дерми | |
| zh | 遗传性真皮弹性组织疾病 | |
| tr | Genetik dermis elastik doku bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680909 | 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 (2):
- ORPHA:79378Dermis elastic tissue disorder
rare skin diseases - ORPHA:183472Genetic dermis disorder
rare genetic diseases
Children (12):
- ORPHA:91135Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- ORPHA:3071Costello syndrome
- ORPHA:209Cutis laxa
- ORPHA:1659Dermatoleukodystrophy
- ORPHA:98249Ehlers-Danlos syndrome
- ORPHA:230857Ehlers-Danlos/osteogenesis imperfecta syndrome
- ORPHA:228277Familial anetoderma
- ORPHA:2295Familial articular hypermobility syndrome
- ORPHA:53296Familial cutaneous collagenoma
- ORPHA:79147Familial reactive perforating collagenosis
- ORPHA:758Pseudoxanthoma elasticum
- ORPHA:436274Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
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/228215
- This record as JSON: /data/d/228215.json