spondylocostal dysostosis, autosomal recessive

Preferred Label : spondylocostal dysostosis, autosomal recessive;

MeSH synonym : autosomal recessive spondylocostal dysostosis; spondylocostal dysostosis 2, autosomal recessive;

Details

Origin ID

C535781;

UMLS CUI

C1837549;

Automatic exact mappings (from CISMeF team)
- Spondylocostal dysostosis, autosomal recessive [ICD-11 More detail]
Currated CISMeF NLP mapping
- Autosomal recessive spondylocostal dysostosis [ORDO Disease]
- Spondylocostal dysostosis 2, autosomal recessive [OMIM Phenotype]
MeSH term(s) associated for indexing
- dysostoses [MeSH Descriptor]
ORDO relation(s)
- Autosomal recessive spondylocostal dysostosis [ORDO Disease]
Record concept(s)
- Spondylocostal dysostosis, autosomal recessive [MeSH concept]
- spondylocostal dysostosis 3, autosomal recessive [MeSH concept]
See also inter- (CISMeF)
- Spondylocostal dysostosis 3, autosomal recessive [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylocostal dysostosis 2, autosomal recessive [OMIM Phenotype]
Validated automatic mappings to NTBT
- Jarcho-Levin syndrome [PASCAL descriptor]
- Jarcho-Levin syndrome (disorder) [SNOMED CT concept]
- Spondylocostal dysostosis [PASCAL descriptor]
- Spondylocostal dysostosis [ACR pathology]
- Spondylocostal dysostosis [ACR pathology]
- Spondylocostal dysostosis 1, autosomal recessive [OMIM Phenotype]
- jarcho-levin syndrome [SNOMED Notion]
- spondylocostal dysostosis [Disease (Nov.)]
- spondylocostal dysostosis [DO Concept]

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