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733046006: Hemifacial hyperplasia strabismus syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498631019 Hemifacial hyperplasia strabismus syndrome en Synonym Active Case insensitive SNOMED CT core
3498632014 Bencze syndrome en Synonym Active Case sensitive SNOMED CT core
3498633016 Hemifacial hyperplasia strabismus syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3499947014 A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with 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. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bencze syndrome Occurrence Congenital true Inferred relationship Some 2
Bencze syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Bencze syndrome Occurrence Congenital true Inferred relationship Some 1
Bencze syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Bencze syndrome Finding site Face structure true Inferred relationship Some 1
Bencze syndrome Finding site Eye region structure true Inferred relationship Some 2
Bencze syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Bencze syndrome Associated morphology Hyperplasia true Inferred relationship Some 1
Bencze syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Bencze syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Bencze syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Bencze syndrome Is a Congenital strabismus true Inferred relationship Some
Bencze syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Bencze syndrome Is a Hemifacial hyperplasia true Inferred relationship Some
Bencze syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Bencze syndrome Occurrence Congenital false Inferred relationship Some 3
Bencze syndrome Finding site Eye region structure false Inferred relationship Some 3
Bencze syndrome Associated morphology Congenital hyperplasia false Inferred relationship Some 4
Bencze syndrome Occurrence Congenital false Inferred relationship Some 4
Bencze syndrome Finding site Face structure false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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