ORPHA:280779
Cutaneous collagenous vasculopathy
Synonyms: CCV
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cutaneous collagenous vasculopathy | CCV |
| fr | Vasculopathie cutanée collagène | CCV · VCC |
| de | Vaskulopathie, kutane kollagenöse | = en |
| es | Vasculopatía colágena cutánea | VCC |
| it | Vasculopatia collagena cutanea | = en |
| nl | Cutane collageneuze vasculopathie | = en |
| pt | Vasculopatia colagenosa cutânea | = en |
| pl | Kolagenowa waskulopatia skórna | = en |
| cs | Kožní kolagenní vaskulopatie | = en |
| uk | Шкірна колагенова васкулопатія | = en |
| zh | 皮肤胶原血管病 | = en |
| tr | Kutanöz kollajenöz vaskülopati | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L98.8 | NTBT | attributed | validated |
| ICD-11 | EF20.Y | NTBT | index | validated |
| MONDO | 0017242 | E | validated | |
| UMLS | C4305323 | E | validated | |
| GARD | 12428 | 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:79379Skin vascular disease
rare skin diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 21916964[PMID]_21571177[PMID]_20525488[PMID]_20451292[PMID]_20000878[PMID]_18537865[PMID]_10660131[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
10 annotations · validated 2016-06-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0007489 | Diffuse telangiectasia | |
| Very frequent (99-80%) | ||
| HP:0000978 | Bruising susceptibility | |
| HP:0010783 | Erythema | |
| HP:0012733 | Macule | |
| HP:0000967 | Petechiae | |
| HP:0007394 | Prominent superficial blood vessels | |
| HP:0000988 | Skin rash | |
| HP:0011276 | Vascular skin abnormality | |
| Frequent (79-30%) | ||
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| Occasional (29-5%) | ||
| HP:0000989 | Pruritus | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20451292[PMID]_26829992[PMID]_26955587[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280779
- This record as JSON: /data/d/280779.json