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733046006: Hemifacial hyperplasia strabismus syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498631019 Hemifacial hyperplasia strabismus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498632014 Bencze syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498633016 Hemifacial hyperplasia strabismus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hemifacial hyperplasia strabismus syndrome survenue (attribut) congénital true Inferred relationship Some 2
Hemifacial hyperplasia strabismus syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hemifacial hyperplasia strabismus syndrome survenue (attribut) congénital true Inferred relationship Some 1
Hemifacial hyperplasia strabismus syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hemifacial hyperplasia strabismus syndrome localisation d'une constatation (attribut) face true Inferred relationship Some 1
Hemifacial hyperplasia strabismus syndrome localisation d'une constatation (attribut) Eye region structure (body structure) true Inferred relationship Some 2
Hemifacial hyperplasia strabismus syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Hemifacial hyperplasia strabismus syndrome morphologie associée (attribut) Hyperplasia (morphologic abnormality) true Inferred relationship Some 1
Hemifacial hyperplasia strabismus syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Hemifacial hyperplasia strabismus syndrome est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Hemifacial hyperplasia strabismus syndrome est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Hemifacial hyperplasia strabismus syndrome est un(e) (attribut) Congenital strabismus true Inferred relationship Some
Hemifacial hyperplasia strabismus syndrome est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Hemifacial hyperplasia strabismus syndrome est un(e) (attribut) Hemifacial hyperplasia true Inferred relationship Some
Hemifacial hyperplasia strabismus syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Hemifacial hyperplasia strabismus syndrome survenue (attribut) congénital false Inferred relationship Some 3
Hemifacial hyperplasia strabismus syndrome localisation d'une constatation (attribut) Eye region structure (body structure) false Inferred relationship Some 3
Hemifacial hyperplasia strabismus syndrome morphologie associée (attribut) Congenital hyperplasia (morphologic abnormality) false Inferred relationship Some 4
Hemifacial hyperplasia strabismus syndrome survenue (attribut) congénital false Inferred relationship Some 4
Hemifacial hyperplasia strabismus syndrome localisation d'une constatation (attribut) face false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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