Preferred Label : pentalogy of cantrell;
MeSH definition : Rare congenital deformity syndrome characterized by a combination of five anomalies
as a result of neural tube defect. The five anomalies are a midline supraumbilical
abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac
defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g.,
PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects
are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the
syndrome.;
MeSH synonym : cantrell pentalogy; pentalogy, cantrell; thoracoabdominal syndrome; thoracoabdominal syndromes; cantrell haller ravitch syndrome; cantrell's pentalogy; cantrells pentalogy; pentalogy, cantrell's;
CISMeF synonym : Cantrell;
Origin ID : D058502;
UMLS CUI : C0559483;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
CISMeF manual mappings
Currated CISMeF NLP mapping
ORDO relation(s)
Record concept(s)
See also
Semantic type(s)
UMLS correspondences (same concept)
Rare congenital deformity syndrome characterized by a combination of five anomalies
as a result of neural tube defect. The five anomalies are a midline supraumbilical
abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac
defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g.,
PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects
are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the
syndrome.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1335
2004
true
France
French
pentalogy of cantrell
scientific and technical information
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