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724068001: Pericardial and diaphragmatic defect syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3429786013 Pericardial and diaphragmatic defect syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3429787016 Pericardial and diaphragmatic defect syndrome en Synonym Active Case insensitive SNOMED CT core
3429788014 Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. It has been reported in less than 20 patients. The absence of pericardic tissue is complete or partial. The diaphragmatic hernia is most often left-sided. Some patients have additional digestive tract malformations. The few reported cases were all sporadic except in a family in which the recurrence of these anomalies in two siblings and the parental consanguinity suggested an autosomal recessive inheritance. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pericardial and diaphragmatic defect syndrome Occurrence Congenital true Inferred relationship Some 3
Pericardial and diaphragmatic defect syndrome Occurrence Congenital true Inferred relationship Some 2
Pericardial and diaphragmatic defect syndrome Occurrence Congenital true Inferred relationship Some 1
Pericardial and diaphragmatic defect syndrome Pathological process Pathological developmental process false Inferred relationship Some 1
Pericardial and diaphragmatic defect syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Pericardial and diaphragmatic defect syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Pericardial and diaphragmatic defect syndrome Finding site Structure of abdominopelvic viscus false Inferred relationship Some 1
Pericardial and diaphragmatic defect syndrome Finding site Diaphragm structure true Inferred relationship Some 3
Pericardial and diaphragmatic defect syndrome Finding site Pericardial structure true Inferred relationship Some 2
Pericardial and diaphragmatic defect syndrome Associated morphology Hernial opening true Inferred relationship Some 3
Pericardial and diaphragmatic defect syndrome Associated morphology Congenital absence false Inferred relationship Some 2
Pericardial and diaphragmatic defect syndrome Associated morphology Hernia true Inferred relationship Some 1
Pericardial and diaphragmatic defect syndrome Finding site Structure of organ within abdominopelvic cavity false Inferred relationship Some 1
Pericardial and diaphragmatic defect syndrome Associated morphology Absence true Inferred relationship Some 2
Pericardial and diaphragmatic defect syndrome Is a Abdominal organ finding false Inferred relationship Some
Pericardial and diaphragmatic defect syndrome Finding site Intra-abdominopelvic structure true Inferred relationship Some 1
Pericardial and diaphragmatic defect syndrome Is a Congenital diaphragmatic hernia true Inferred relationship Some
Pericardial and diaphragmatic defect syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Pericardial and diaphragmatic defect syndrome Is a Congenital anomaly of pericardium true Inferred relationship Some
Pericardial and diaphragmatic defect syndrome Is a Congenital absence false Inferred relationship Some
Pericardial and diaphragmatic defect syndrome Occurrence Congenital false Inferred relationship Some 4
Pericardial and diaphragmatic defect syndrome Occurrence Congenital false Inferred relationship Some 5
Pericardial and diaphragmatic defect syndrome Occurrence Congenital false Inferred relationship Some 6
Pericardial and diaphragmatic defect syndrome Occurrence Congenital false Inferred relationship Some 7
Pericardial and diaphragmatic defect syndrome Finding site Diaphragm structure false Inferred relationship Some 4
Pericardial and diaphragmatic defect syndrome Associated morphology Hernia false Inferred relationship Some 5
Pericardial and diaphragmatic defect syndrome Finding site Structure of abdominopelvic viscus false Inferred relationship Some 5
Pericardial and diaphragmatic defect syndrome Finding site Diaphragm structure false Inferred relationship Some 6
Pericardial and diaphragmatic defect syndrome Associated morphology Congenital absence false Inferred relationship Some 7
Pericardial and diaphragmatic defect syndrome Finding site Pericardial structure false Inferred relationship Some 7
Pericardial and diaphragmatic defect syndrome Associated morphology Hernial opening false Inferred relationship Some 4
Pericardial and diaphragmatic defect syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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