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1197754004: Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4697921012 Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697922017 Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697923010 Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697924016 Serpentine-like syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697925015 A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4697926019 A rare syndromic oesophageal malformation characterised by severe congenital brachyoesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period. 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
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome est un(e) (attribut) hernie diaphragmatique congénitale true Inferred relationship Some
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome est un(e) (attribut) Congenital malformation syndrome (disorder) true Inferred relationship Some
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome est un(e) (attribut) Congenital short esophagus (disorder) true Inferred relationship Some
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome est un(e) (attribut) Congenital anomaly of spine true Inferred relationship Some
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome est un(e) (attribut) Congenital displacement of stomach true Inferred relationship Some
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome survenue (attribut) congénital true Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome localisation d'une constatation (attribut) œsophage (structure corporelle) true Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome survenue (attribut) congénital true Inferred relationship Some 2
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome localisation d'une constatation (attribut) structure de l'estomac true Inferred relationship Some 2
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome morphologie associée (attribut) Malposition (morphologic abnormality) true Inferred relationship Some 2
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome survenue (attribut) congénital true Inferred relationship Some 3
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome localisation d'une constatation (attribut) diaphragme (structure corporelle) true Inferred relationship Some 3
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome morphologie associée (attribut) Hernial opening (morphologic abnormality) true Inferred relationship Some 3
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome survenue (attribut) congénital true Inferred relationship Some 4
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome localisation d'une constatation (attribut) structure de la cavité abdominopelvienne et/ou contenu de la cavité abdominopelvienne et/ou paroi abdominale antérieure (structure corporelle) true Inferred relationship Some 4
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome morphologie associée (attribut) Herniated structure (morphologic abnormality) true Inferred relationship Some 4
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome survenue (attribut) congénital true Inferred relationship Some 5
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome localisation d'une constatation (attribut) Structure of vertebral column and/or spinal cord (body structure) true Inferred relationship Some 5
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 5
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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