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770900000: Familial omphalocele syndrome with facial dysmorphism (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3703339017 Familial omphalocele syndrome with facial dysmorphism (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3703340015 Familial omphalocele syndrome with facial dysmorphism en Synonym Active Case insensitive SNOMED CT core
3703341016 A rare genetic developmental defect during embryogenesis with characteristics of omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial omphalocele syndrome with facial dysmorphism Pathological process Pathological developmental process true Inferred relationship Some 3
Familial omphalocele syndrome with facial dysmorphism Pathological process Pathological developmental process true Inferred relationship Some 1
Familial omphalocele syndrome with facial dysmorphism Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Familial omphalocele syndrome with facial dysmorphism Pathological process Pathological developmental process true Inferred relationship Some 2
Familial omphalocele syndrome with facial dysmorphism Finding site Structure of abdominopelvic viscus false Inferred relationship Some 4
Familial omphalocele syndrome with facial dysmorphism Associated morphology Protrusion true Inferred relationship Some 1
Familial omphalocele syndrome with facial dysmorphism Finding site Structure of organ within abdominopelvic cavity false Inferred relationship Some 4
Familial omphalocele syndrome with facial dysmorphism Is a Developmental hereditary disorder true Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism Finding site Intra-abdominopelvic structure true Inferred relationship Some 4
Familial omphalocele syndrome with facial dysmorphism Is a Congenital anomaly of intestinal tract true Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism Occurrence Congenital true Inferred relationship Some 3
Familial omphalocele syndrome with facial dysmorphism Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism Occurrence Congenital true Inferred relationship Some 2
Familial omphalocele syndrome with facial dysmorphism Associated morphology Hernia true Inferred relationship Some 4
Familial omphalocele syndrome with facial dysmorphism Is a Congenital omphalocele true Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism Is a Digestive system hereditary disorder true Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism Occurrence Congenital true Inferred relationship Some 1
Familial omphalocele syndrome with facial dysmorphism Associated morphology Congenital protrusion false Inferred relationship Some 1
Familial omphalocele syndrome with facial dysmorphism Finding site Intestinal structure true Inferred relationship Some 1
Familial omphalocele syndrome with facial dysmorphism Occurrence Congenital true Inferred relationship Some 4
Familial omphalocele syndrome with facial dysmorphism Finding site Umbilical structure true Inferred relationship Some 3
Familial omphalocele syndrome with facial dysmorphism Associated morphology Hernial opening true Inferred relationship Some 3
Familial omphalocele syndrome with facial dysmorphism Finding site Face structure true Inferred relationship Some 2

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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