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719408007: syndrome létal d'omphalocèle-fente palatine (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3316242018 Lethal omphalocele with cleft palate syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316243011 Lethal omphalocele with cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316244017 Czeizel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
754111000241119 syndrome létal d'omphalocèle-fente palatine (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
909121000172115 syndrome de Czeizel fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
961721000172117 syndrome létal d'omphalocèle-fente palatine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3316245016 Syndrome with the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. This syndrome is likely to be inherited as an autosomal recessive condition. 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
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Herniated structure (morphologic abnormality) true Inferred relationship Some 3
Lethal omphalocele with cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Lethal omphalocele with cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome (disorder) localisation d'une constatation (attribut) Structure of abdominopelvic viscus false Inferred relationship Some 3
Lethal omphalocele with cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Lethal omphalocele with cleft palate syndrome (disorder) localisation d'une constatation (attribut) Structure of organ within abdominopelvic cavity (body structure) true Inferred relationship Some 3
Lethal omphalocele with cleft palate syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
Lethal omphalocele with cleft palate syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Lethal omphalocele with cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Lethal omphalocele with cleft palate syndrome (disorder) localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 4
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
Lethal omphalocele with cleft palate syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Lethal omphalocele with cleft palate syndrome (disorder) est un(e) (attribut) Congenital omphalocele true Inferred relationship Some
Lethal omphalocele with cleft palate syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Lethal omphalocele with cleft palate syndrome (disorder) est un(e) (attribut) fente palatine true Inferred relationship Some
Lethal omphalocele with cleft palate syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Herniated structure (morphologic abnormality) false Inferred relationship Some 6
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Hernial opening (morphologic abnormality) false Inferred relationship Some 7
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Hernial opening (morphologic abnormality) false Inferred relationship Some 8
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 10
Lethal omphalocele with cleft palate syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 10
Lethal omphalocele with cleft palate syndrome (disorder) localisation d'une constatation (attribut) Abdominal wall false Inferred relationship Some 10
Lethal omphalocele with cleft palate syndrome (disorder) localisation d'une constatation (attribut) Abdominopelvic cavity structure false Inferred relationship Some 6
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 9
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 8
Lethal omphalocele with cleft palate syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Lethal omphalocele with cleft palate syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 9
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Congenital protrusion (morphologic abnormality) false Inferred relationship Some 11
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Herniated structure (morphologic abnormality) false Inferred relationship Some 11
Lethal omphalocele with cleft palate syndrome (disorder) localisation d'une constatation (attribut) intestins false Inferred relationship Some 11
Lethal omphalocele with cleft palate syndrome (disorder) localisation d'une constatation (attribut) Abdominal wall false Inferred relationship Some 7
Lethal omphalocele with cleft palate syndrome (disorder) localisation d'une constatation (attribut) ombilic false Inferred relationship Some 8
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Hernial opening (morphologic abnormality) false Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome (disorder) localisation d'une constatation (attribut) ombilic false Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 2
Lethal omphalocele with cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Lethal omphalocele with cleft palate syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 2
Lethal omphalocele with cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome (disorder) localisation d'une constatation (attribut) Palatal structure true Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome (disorder) morphologie associée (attribut) Hernial opening (morphologic abnormality) true Inferred relationship Some 2
Lethal omphalocele with cleft palate syndrome (disorder) localisation d'une constatation (attribut) ombilic 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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