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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