ORPHA:95429
Angioma serpiginosum
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable, X-linked recessive
- Age of onset
- Childhood
- Status
- active
A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Angioma serpiginosum | |
| fr | Angioma serpiginosum | |
| de | Angioma serpiginosum | |
| es | Angioma serpiginoso | |
| it | Angioma serpiginoso | |
| nl | Angioma serpiginosum | |
| pt | Angioma serpiginoso | |
| pl | Naczyniak pełzakowaty | |
| cs | Angioma serpinginosum | |
| uk | Ангіома серпігінозна | |
| zh | 匐行性血管瘤 | |
| tr | Anjiyo serpiginosum |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106050 | BTNT | validated | |
| OMIM | 300652 | BTNT | validated | |
| ICD-10 | L81.7 | NTBT | inclusion | validated |
| ICD-11 | LC50.Y | NTBT | index | validated |
| MONDO | 0019803 | E | validated | |
| UMLS | C0263637 | E | validated | |
| MedDRA | 10086217 | 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 (3):
- ORPHA:183478Genetic skin vascular disorder
rare genetic diseases - ORPHA:211247Rare capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:79379Skin vascular disease
rare skin diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010783 | Erythema | |
| HP:0012733 | Macule | |
| HP:0011276 | Vascular skin abnormality | |
| Occasional (29-5%) | ||
| HP:0007797 | Retinal vascular malformation | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 17342156[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95429
- This record as JSON: /data/d/95429.json