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770900000: syndrome omphalocèle familial avec dysmorphie faciale (trouble)


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
769971000241117 syndrome omphalocèle familial avec dysmorphie faciale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
898811000172119 syndrome omphalocèle familial avec dysmorphie faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 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) 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) morphologie associée (attribut) structure anormale sur le plan morphologique 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) localisation d'une constatation (attribut) Structure of abdominopelvic viscus false Inferred relationship Some 4
Familial omphalocele syndrome with facial dysmorphism (disorder) morphologie associée (attribut) Protrusion true Inferred relationship Some 1
Familial omphalocele syndrome with facial dysmorphism (disorder) localisation d'une constatation (attribut) Structure of organ within abdominopelvic cavity (body structure) true Inferred relationship Some 4
Familial omphalocele syndrome with facial dysmorphism (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism (disorder) est un(e) (attribut) Congenital anomaly of intestinal tract true Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Familial omphalocele syndrome with facial dysmorphism (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Familial omphalocele syndrome with facial dysmorphism (disorder) morphologie associée (attribut) Herniated structure (morphologic abnormality) true Inferred relationship Some 4
Familial omphalocele syndrome with facial dysmorphism (disorder) est un(e) (attribut) Congenital omphalocele true Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Familial omphalocele syndrome with facial dysmorphism (disorder) morphologie associée (attribut) Congenital protrusion (morphologic abnormality) false Inferred relationship Some 1
Familial omphalocele syndrome with facial dysmorphism (disorder) localisation d'une constatation (attribut) intestins true Inferred relationship Some 1
Familial omphalocele syndrome with facial dysmorphism (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Familial omphalocele syndrome with facial dysmorphism (disorder) localisation d'une constatation (attribut) ombilic true Inferred relationship Some 3
Familial omphalocele syndrome with facial dysmorphism (disorder) morphologie associée (attribut) Hernial opening (morphologic abnormality) true Inferred relationship Some 3
Familial omphalocele syndrome with facial dysmorphism (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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