Spondylocostal Dysostosis

Preferred Label : Spondylocostal Dysostosis;

NCIt definition : A rare disorder caused by mutations in the DLL3 gene, MESP2 gene, LFNG gene, or HES7 gene. It is characterized by abnormal development of bones in the spine and ribs.;

Details

Origin ID

C125598;

UMLS CUI

C0265343;

Currated CISMeF NLP mapping
- Jarcho-Levin syndrome [MeSH Supplementary Concept]
- Jarcho-Levin syndrome [PASCAL descriptor]
- Jarcho-Levin syndrome [MeSH concept]
- Jarcho-Levin syndrome (disorder) [SNOMED CT concept]
- Spondylocostal dysostosis [PASCAL descriptor]
- Spondylocostal dysostosis [OMIM phenotypic series]
- Spondylocostal dysostosis [ACR pathology]
- Spondylocostal dysostosis [ACR pathology]
- jarcho-levin syndrome [SNOMED Notion]
- spondylocostal dysostosis [DO Concept]
- spondylocostal dysostosis [Disease (Nov.)]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jarcho-Levin syndrome [PASCAL descriptor]
- Jarcho-Levin syndrome [MeSH Supplementary Concept]
- Jarcho-Levin syndrome [MeSH concept]
- Jarcho-Levin syndrome [MedDRA LLT]
- Jarcho-Levin syndrome (disorder) [SNOMED CT concept]
- Spondylocostal dysostosis [ACR pathology]
- Spondylocostal dysostosis [ACR pathology]
- Spondylocostal dysostosis [PASCAL descriptor]
- Spondylocostal dysostosis [MedDRA Preferred Term]
- Spondylocostal dysostosis 1, autosomal recessive [OMIM Phenotype]
- jarcho-levin syndrome [SNOMED Notion]
- spondylocostal dysostosis [DO Concept]
- spondylocostal dysostosis [Disease (Nov.)]
Validated automatic mappings to BTNT
- Autosomal recessive spondylocostal dysostosis [ORDO Disease]
- Spondylocostal dysostosis 1, autosomal recessive [OMIM Phenotype]
- Spondylocostal dysostosis, autosomal recessive [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]

Keyword's position in hierarchy(ies) :

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