Angioma, tufted

Preferred Label : Angioma, tufted;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Tufted angioma;

Description : Tufted angioma is a rare benign vascular lesion that predominantly affects children under 5 years of age but may occur in adulthood. Some cases of tufted angioma have been reported in the mother during pregnancy, whereas in other cases the tufted angioma may be congenital. The lesions occur predominantly on the neck, shoulders, and trunk and appear histologically in a 'cannonball' distribution of rounded nodules or tufts of capillary-sized vessels in the dermis, with lymphatic vessels present at the periphery. The natural history is slow progressive growth, after which it tends to remain stable in size. Regression has been reported in some cases. Tufted angioma should be distinguished from kaposiform hemangioendothelioma (KHE). Multiple tufted angioma and KHE may be associated with Kasabach-Merritt syndrome (141000), which is characterized by severe thrombocytopenia and consumption of coagulation factors (summary by Tille et al., 2003).;

Inheritance : Autosomal dominant;

Prefixed ID : 607859;

Details

Origin ID

607859;

UMLS CUI

C0346073;

Automatic exact mappings (from CISMeF team)
- Tufted angioma [ICD-11 More detail]
- Tufted angioma of skin (disorder) [SNOMED CT concept]
- hemangioblastoma [MeSH Descriptor]
Currated CISMeF NLP mapping
- Tufted Angioma [NCIt concept]
- Tufted angioma [PASCAL descriptor]
- Tufted angioma [HPO term]
- Tufted angioma [MeSH concept]
- Tufted angioma [ORDO Disease]
- Tufted angioma (disorder) [SNOMED CT concept]
- tufted angioma [Disease (Nov.)]
- tufted angioma [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of skin pigmentation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal dominant with reduced penetrance [HPO term]
- Frequent bleeding may occur with trauma [HPO term]
- Incomplete penetrance [HPO term]
- Tufted angioma [HPO term]
- Vascular skin abnormality [HPO term]
ORDO concept(s)
- Tufted angioma [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Tufted Angioma [NCIt concept]
- Tufted angioma [ORDO Disease]
- Tufted angioma [MeSH concept]
- Tufted angioma [HPO term]
- Tufted angioma [PASCAL descriptor]
- Tufted angioma (disorder) [SNOMED CT concept]
- Tufted angioma of skin (disorder) [SNOMED CT concept]
- tufted angioma [MeSH Supplementary Concept]
- tufted angioma [Disease (Nov.)]

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