Abdominal organ finding
Congenital anomaly of pericardium
Congenital diaphragmatic hernia
Multiple system malformation syndrome
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Pericardial and diaphragmatic defect syndrome (disorder)
Pericardial and diaphragmatic defect syndrome
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.
syndroom van pericard- en diafragmadefect
syndroom van pericardiaal en diafragmatisch defect
Id724068001
StatusPrimitive
Associated morphologyHernial opening
Finding siteDiaphragm structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbsence
Finding sitePericardial structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHernia
Finding siteOrgan within abdominopelvic cavity
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ24.8
RuleTRUE
AdviceALWAYS Q24.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ79.0
RuleTRUE
AdviceALWAYS Q79.0
CorrelationSNOMED CT source code to target map code correlation not specified