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724068001: Pericardial and diaphragmatic defect syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3429787016 Pericardial and diaphragmatic defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403212015 Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429786013 Pericardial and diaphragmatic defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3429787016 Pericardial and diaphragmatic defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403212015 Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3423501001000118 Perikarddefekt - Hernia diaphragmatica de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5486561000241119 anomalies du péricarde et du diaphragme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5486561000241119 anomalies du péricarde et du diaphragme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423501001000118 Perikarddefekt - Hernia diaphragmatica 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
Pericardial and diaphragmatic defect syndrome Is a Congenital diaphragmatic hernia true Inferred relationship Existential restriction modifier (core metadata concept)
Pericardial and diaphragmatic defect syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Pericardial and diaphragmatic defect syndrome Is a Congenital anomaly of pericardium true Inferred relationship Existential restriction modifier (core metadata concept)
Pericardial and diaphragmatic defect syndrome Is a Congenital absence false Inferred relationship Existential restriction modifier (core metadata concept)
Pericardial and diaphragmatic defect syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Pericardial and diaphragmatic defect syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Pericardial and diaphragmatic defect syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Pericardial and diaphragmatic defect syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Pericardial and diaphragmatic defect syndrome Finding site Diaphragm structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Pericardial and diaphragmatic defect syndrome Associated morphology Herniated structure (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Pericardial and diaphragmatic defect syndrome Finding site Structure of abdominopelvic viscus false Inferred relationship Existential restriction modifier (core metadata concept) 5
Pericardial and diaphragmatic defect syndrome Finding site Diaphragm structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Pericardial and diaphragmatic defect syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Pericardial and diaphragmatic defect syndrome Finding site Pericardial structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Pericardial and diaphragmatic defect syndrome Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Pericardial and diaphragmatic defect syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Pericardial and diaphragmatic defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pericardial and diaphragmatic defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pericardial and diaphragmatic defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pericardial and diaphragmatic defect syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pericardial and diaphragmatic defect syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pericardial and diaphragmatic defect syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pericardial and diaphragmatic defect syndrome Finding site Structure of abdominopelvic viscus false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pericardial and diaphragmatic defect syndrome Finding site Diaphragm structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pericardial and diaphragmatic defect syndrome Finding site Pericardial structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pericardial and diaphragmatic defect syndrome Associated morphology Hernial opening (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pericardial and diaphragmatic defect syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Pericardial and diaphragmatic defect syndrome Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pericardial and diaphragmatic defect syndrome Finding site Organ within abdominopelvic cavity false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pericardial and diaphragmatic defect syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pericardial and diaphragmatic defect syndrome Is a Abdominal organ finding false Inferred relationship Existential restriction modifier (core metadata concept)
Pericardial and diaphragmatic defect syndrome Finding site Intra-abdominopelvic structure true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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