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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
5399790017 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
5399791018 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
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
5399790017 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
5399791018 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
3430521001000116 Kongenitaler Brachyösophagus-intrathorakaler Magen-Wirbelanomalien-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3430521001000116 Kongenitaler Brachyösophagus-intrathorakaler Magen-Wirbelanomalien-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Is a Congenital diaphragmatic hernia true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Is a Congenital malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Is a Congenital short oesophagus true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Is a Congenital anomaly of spine true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Is a Congenital displacement of stomach true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Finding site Oesophageal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Finding site Stomach structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Associated morphology Malposition (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Finding site Diaphragm structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Associated morphology Hernial opening (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Finding site Structure of abdominopelvic cavity and/or content of abdominopelvic cavity and/or anterior abdominal wall (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Finding site Structure of vertebral column and/or spinal cord true Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Finding site Intra-abdominopelvic structure true Inferred relationship Existential restriction modifier (core metadata concept) 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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