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764100007: malformation veineuse osseuse primaire (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1019751000172117 hémangiome intraosseux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3646045014 Intraosseous hemangioma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646046010 Intraosseous haemangioma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646047018 Primary intraosseous venous malformation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646048011 Osseous venous malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646049015 Primary intraosseous venous malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
766811000241112 malformation veineuse osseuse primaire (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
926861000172119 malformation veineuse osseuse primaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary intraosseous venous malformation (disorder) est un(e) (attribut) masse d'une structure cardiovasculaire false Inferred relationship Some
Primary intraosseous venous malformation (disorder) est un(e) (attribut) Congenital vascular disorder (disorder) false Inferred relationship Some
Primary intraosseous venous malformation (disorder) est un(e) (attribut) lésion de tissu mou false Inferred relationship Some
Primary intraosseous venous malformation (disorder) est un(e) (attribut) Mass of soft tissue (finding) false Inferred relationship Some
Primary intraosseous venous malformation (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Primary intraosseous venous malformation (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Primary intraosseous venous malformation (disorder) est un(e) (attribut) Infantile haemangioma of rare localisation true Inferred relationship Some
Primary intraosseous venous malformation (disorder) est un(e) (attribut) Congenital hemangioma true Inferred relationship Some
Primary intraosseous venous malformation (disorder) morphologie associée (attribut) Benign hemangioma true Inferred relationship Some 1
Primary intraosseous venous malformation (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Primary intraosseous venous malformation (disorder) localisation d'une constatation (attribut) Blood vessel structure (body structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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