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


Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
4697922017 Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4697923010 Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome en Synonym Active Case insensitive SNOMED CT core
4697924016 Serpentine-like syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Is a Congenital diaphragmatic hernia true Inferred relationship Some
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Is a Congenital malformation syndrome true Inferred relationship Some
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Is a Congenital short oesophagus true Inferred relationship Some
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Is a Congenital anomaly of spine true Inferred relationship Some
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Is a Congenital displacement of stomach true Inferred relationship Some
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence Congenital true Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Finding site Oesophageal structure true Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Associated morphology Abnormally short growth true Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence Congenital true Inferred relationship Some 2
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Finding site Structure of stomach true Inferred relationship Some 2
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Associated morphology Malposition true Inferred relationship Some 2
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence Congenital true Inferred relationship Some 3
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Finding site Diaphragm structure true Inferred relationship Some 3
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Associated morphology Hernial opening true Inferred relationship Some 3
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence Congenital true Inferred relationship Some 4
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Finding site Structure of abdomen false Inferred relationship Some 4
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Associated morphology Hernia true Inferred relationship Some 4
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence Congenital true Inferred relationship Some 5
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Finding site Structure of vertebral column and/or spinal cord true Inferred relationship Some 5
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 5
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Finding site Intra-abdominopelvic structure true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Respiratory finding reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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