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770900000: Familial omphalocele syndrome with facial dysmorphism (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3703340015 Familial omphalocele syndrome with facial dysmorphism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404949013 Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5404950013 Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterised by 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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