spondylocostal dysostosis with anal atresia and urogenital anomalies

Preferred Label : spondylocostal dysostosis with anal atresia and urogenital anomalies;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0565099;

UMLS CUI

C1849069;

Currated CISMeF NLP mapping
- Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) [SNOMED CT concept]
- Spondylocostal dysostosis with anal atresia and urogenital anomalies [OMIM Phenotype]
- Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome [ORDO Disease]
Related record
- spondylocostal dysostosis with anal atresia and urogenital anomalies [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) [SNOMED CT concept]
- Spondylocostal dysostosis with anal atresia and urogenital anomalies [OMIM Phenotype]
- Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome [ORDO Disease]