FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

716230005: Shprintzen Goldberg omphalocele syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3305152012 Shprintzen Goldberg omphalocele syndrome en Synonym Active Case sensitive SNOMED CT core
3305153019 Omphalocele syndrome Shprintzen Goldberg type en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Shprintzen Goldberg omphalocele syndrome Occurrence Congenital true Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome Occurrence Congenital true Inferred relationship Some 2
Shprintzen Goldberg omphalocele syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Shprintzen Goldberg omphalocele syndrome Finding site Face structure true Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome Associated morphology Hernia true Inferred relationship Some 3
Shprintzen Goldberg omphalocele syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome Occurrence Congenital true Inferred relationship Some 3
Shprintzen Goldberg omphalocele syndrome Associated morphology Hernial opening true Inferred relationship Some 2
Shprintzen Goldberg omphalocele syndrome Finding site Structure of abdominopelvic viscus false Inferred relationship Some 3
Shprintzen Goldberg omphalocele syndrome Finding site Umbilical structure true Inferred relationship Some 2
Shprintzen Goldberg omphalocele syndrome Finding site Structure of organ within abdominopelvic cavity false Inferred relationship Some 3
Shprintzen Goldberg omphalocele syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome Finding site Intra-abdominopelvic structure true Inferred relationship Some 3
Shprintzen Goldberg omphalocele syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome Is a Congenital omphalocele true Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome Is a Digestive system hereditary disorder false Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome Associated morphology Hernial opening false Inferred relationship Some 6
Shprintzen Goldberg omphalocele syndrome Finding site Abdominal wall structure false Inferred relationship Some 6
Shprintzen Goldberg omphalocele syndrome Associated morphology Developmental abnormality false Inferred relationship Some 8
Shprintzen Goldberg omphalocele syndrome Occurrence Congenital false Inferred relationship Some 8
Shprintzen Goldberg omphalocele syndrome Finding site Abdominal wall structure false Inferred relationship Some 8
Shprintzen Goldberg omphalocele syndrome Associated morphology Developmental abnormality false Inferred relationship Some 10
Shprintzen Goldberg omphalocele syndrome Occurrence Congenital false Inferred relationship Some 10
Shprintzen Goldberg omphalocele syndrome Finding site Face structure false Inferred relationship Some 10
Shprintzen Goldberg omphalocele syndrome Associated morphology Hernia false Inferred relationship Some 7
Shprintzen Goldberg omphalocele syndrome Finding site Abdominopelvic cavity structure false Inferred relationship Some 7
Shprintzen Goldberg omphalocele syndrome Associated morphology Congenital protrusion false Inferred relationship Some 9
Shprintzen Goldberg omphalocele syndrome Associated morphology Hernia false Inferred relationship Some 9
Shprintzen Goldberg omphalocele syndrome Finding site Intestinal structure false Inferred relationship Some 9
Shprintzen Goldberg omphalocele syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 11
Shprintzen Goldberg omphalocele syndrome Associated morphology Hernial opening false Inferred relationship Some 11
Shprintzen Goldberg omphalocele syndrome Finding site Umbilical structure false Inferred relationship Some 11
Shprintzen Goldberg omphalocele syndrome Associated morphology Hernial opening false Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome Finding site Umbilical structure false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start