697962004: Hemifacial hyperplasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Hemifacial hyperplasia
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Hemifacial hyperplasia

\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Hemifacial hyperplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2968148014 Hemifacial hyperplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2968200016 Hemifacial hyperplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

986271000172117 hypertrophie hémifaciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

989641000172116 hyperplasie hémifaciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3424501001000116 Hyperplasie, hemifaziale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hemifacial hyperplasia	Is a	Disorder of face (disorder)	true	Inferred relationship	Some
Hemifacial hyperplasia	Associated morphology	Hyperplasia	true	Inferred relationship	Some	1
Hemifacial hyperplasia	Finding site	Face structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.	Is a	True	Hemifacial hyperplasia	Inferred relationship	Some

This concept is not in any reference sets