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716230005: Shprintzen Goldberg omphalocele syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3305151017 Shprintzen Goldberg omphalocele syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305152012 Shprintzen Goldberg omphalocele syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305153019 Omphalocele syndrome Shprintzen Goldberg type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305154013 A very rare inherited malformation syndrome with characteristics of omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. 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
Shprintzen Goldberg omphalocele syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Shprintzen Goldberg omphalocele syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Shprintzen Goldberg omphalocele syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome (disorder) morphologie associée (attribut) Herniated structure (morphologic abnormality) true Inferred relationship Some 3
Shprintzen Goldberg omphalocele syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Shprintzen Goldberg omphalocele syndrome (disorder) morphologie associée (attribut) Hernial opening (morphologic abnormality) true Inferred relationship Some 2
Shprintzen Goldberg omphalocele syndrome (disorder) localisation d'une constatation (attribut) Structure of abdominopelvic viscus false Inferred relationship Some 3
Shprintzen Goldberg omphalocele syndrome (disorder) localisation d'une constatation (attribut) ombilic true Inferred relationship Some 2
Shprintzen Goldberg omphalocele syndrome (disorder) localisation d'une constatation (attribut) Structure of organ within abdominopelvic cavity (body structure) true Inferred relationship Some 3
Shprintzen Goldberg omphalocele syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) est un(e) (attribut) Congenital omphalocele true Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) morphologie associée (attribut) Hernial opening (morphologic abnormality) false Inferred relationship Some 6
Shprintzen Goldberg omphalocele syndrome (disorder) localisation d'une constatation (attribut) Abdominal wall false Inferred relationship Some 6
Shprintzen Goldberg omphalocele syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 8
Shprintzen Goldberg omphalocele syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Shprintzen Goldberg omphalocele syndrome (disorder) localisation d'une constatation (attribut) Abdominal wall false Inferred relationship Some 8
Shprintzen Goldberg omphalocele syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 10
Shprintzen Goldberg omphalocele syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 10
Shprintzen Goldberg omphalocele syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 10
Shprintzen Goldberg omphalocele syndrome (disorder) morphologie associée (attribut) Herniated structure (morphologic abnormality) false Inferred relationship Some 7
Shprintzen Goldberg omphalocele syndrome (disorder) localisation d'une constatation (attribut) Abdominopelvic cavity structure false Inferred relationship Some 7
Shprintzen Goldberg omphalocele syndrome (disorder) morphologie associée (attribut) Congenital protrusion (morphologic abnormality) false Inferred relationship Some 9
Shprintzen Goldberg omphalocele syndrome (disorder) morphologie associée (attribut) Herniated structure (morphologic abnormality) false Inferred relationship Some 9
Shprintzen Goldberg omphalocele syndrome (disorder) localisation d'une constatation (attribut) intestins false Inferred relationship Some 9
Shprintzen Goldberg omphalocele syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 11
Shprintzen Goldberg omphalocele syndrome (disorder) morphologie associée (attribut) Hernial opening (morphologic abnormality) false Inferred relationship Some 11
Shprintzen Goldberg omphalocele syndrome (disorder) localisation d'une constatation (attribut) ombilic false Inferred relationship Some 11
Shprintzen Goldberg omphalocele syndrome (disorder) morphologie associée (attribut) Hernial opening (morphologic abnormality) false Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome (disorder) localisation d'une constatation (attribut) ombilic false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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