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764100007: Primary intraosseous venous malformation (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3646045014 Intraosseous hemangioma en Synonym Active Case insensitive SNOMED CT core
3646046010 Intraosseous haemangioma en Synonym Active Case insensitive SNOMED CT core
3646047018 Primary intraosseous venous malformation (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3646048011 Osseous venous malformation en Synonym Active Case insensitive SNOMED CT core
3646049015 Primary intraosseous venous malformation en Synonym Active Case insensitive SNOMED CT core
3646051016 A rare genetic vascular anomaly with characteristics of severe blood vessel expansion most frequently within the craniofacial bones with painless bone enlargement usually of mandibula, maxilla and/or orbital, nasal and frontal bones. This typically results in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos and loss of vision, nausea, and vomiting. There is evidence the disease is caused by homozygous mutation in the ELMO2 gene on chromosome 20q13. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary intraosseous venous malformation Is a Mass of cardiovascular structure false Inferred relationship Some
Primary intraosseous venous malformation Is a Congenital vascular disorder false Inferred relationship Some
Primary intraosseous venous malformation Is a Soft tissue lesion false Inferred relationship Some
Primary intraosseous venous malformation Is a Mass of soft tissue false Inferred relationship Some
Primary intraosseous venous malformation Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Primary intraosseous venous malformation Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Primary intraosseous venous malformation Is a Infantile haemangioma of rare localisation true Inferred relationship Some
Primary intraosseous venous malformation Is a Congenital haemangioma true Inferred relationship Some
Primary intraosseous venous malformation Associated morphology Benign haemangioma true Inferred relationship Some 1
Primary intraosseous venous malformation Occurrence Congenital true Inferred relationship Some 1
Primary intraosseous venous malformation Finding site Blood vessel structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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