Vascular malformation, primary intraosseous

Preferred Label : Vascular malformation, primary intraosseous;

Symbol : VMPI;

CISMeF acronym : VMOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vascular malformation osseous; VMOS; Hemangioma, intraosseous;

Description : Primary intraosseous vascular anomaly, previously called intraosseous hemangioma, is a rare malformation that usually involves the vertebral column and the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequent (Vargel et al., 2002).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the engulfment and cell motility gene-2 gene (ELMO2, 606421.0001);

Laboratory abnormalities : Elevated alkaline phosphatase; Elevated lactate dehydrogenase (in some patients);

Prefixed ID : #606893;

Détails

Origin ID

606893;

UMLS CUI

C1847197;

Automatic exact mappings (from CISMeF team)
- Primary intraosseous vascular malformation [ICD-11 More detail]
Currated CISMeF NLP mapping
- Primary intraosseous venous malformation [ORDO Disease]
- Primary intraosseous venous malformation (disorder) [SNOMED CT concept]
- intraosseous hemangioma [Radlex concept]
- vascular malformation, primary intraosseous [MeSH concept]
- vascular malformation, primary intraosseous [MeSH Supplementary Concept]
Genes related to phenotype
- Engulfment and cell motility gene 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diastasis recti [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Facial asymmetry [HPO term]
- Gingival bleeding [HPO term]
- Hypochromic anemia [HPO term]
- Increased intracranial pressure [HPO term]
- Proptosis [HPO term]
- Supraumbilical raphe [HPO term]
- Umbilical hernia [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Primary intraosseous venous malformation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary intraosseous venous malformation [ORDO Disease]
- Primary intraosseous venous malformation (disorder) [SNOMED CT concept]
- intraosseous hemangioma [Radlex concept]
- vascular malformation, primary intraosseous [MeSH Supplementary Concept]
- vascular malformation, primary intraosseous [MeSH concept]

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