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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
3859221000052111 Shprintzen-Goldbergs navelsträngsbråck sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Shprintzen Goldberg omphalocele syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) Is a Congenital omphalocele true Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Some 6
Shprintzen Goldberg omphalocele syndrome (disorder) Finding site bukvägg, struktur false Inferred relationship Some 6
Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 8
Shprintzen Goldberg omphalocele syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Shprintzen Goldberg omphalocele syndrome (disorder) Finding site bukvägg, struktur false Inferred relationship Some 8
Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 10
Shprintzen Goldberg omphalocele syndrome (disorder) Occurrence Congenital false Inferred relationship Some 10
Shprintzen Goldberg omphalocele syndrome (disorder) Finding site Face structure false Inferred relationship Some 10
Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology Herniated structure (morphologic abnormality) false Inferred relationship Some 7
Shprintzen Goldberg omphalocele syndrome (disorder) Finding site bukhåla, struktur false Inferred relationship Some 7
Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology kongenital protrusion false Inferred relationship Some 9
Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology Herniated structure (morphologic abnormality) false Inferred relationship Some 9
Shprintzen Goldberg omphalocele syndrome (disorder) Finding site Intestinal structure false Inferred relationship Some 9
Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology medfödd utebliven fusion false Inferred relationship Some 11
Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Some 11
Shprintzen Goldberg omphalocele syndrome (disorder) Finding site Umbilical structure false Inferred relationship Some 11
Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome (disorder) Finding site Umbilical structure false Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) 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) Finding site Face structure true Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology 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) Occurrence Congenital true Inferred relationship Some 3
Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology Hernial opening (morphologic abnormality) true Inferred relationship Some 2
Shprintzen Goldberg omphalocele syndrome (disorder) Finding site bukorgan, struktur false Inferred relationship Some 3
Shprintzen Goldberg omphalocele syndrome (disorder) Finding site Umbilical structure true Inferred relationship Some 2
Shprintzen Goldberg omphalocele syndrome (disorder) Finding site Structure of organ within abdominopelvic cavity (body structure) true Inferred relationship Some 3
Shprintzen Goldberg omphalocele syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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