Jarcho-Levin syndrome

Preferred Label : Jarcho-Levin syndrome;

CISMeF synonym : spondylocostal dysplasia, recessive form;

MeSH synonym : spondylocostal dysostosis; costovertebral dysplasia; spondylothoracic dysplasia; spondylocostal dysostosis 1, autosomal recessive; spondylothoracic dysostosis; SCDO1 Spondylocostal dysostosis 1;

Details

Origin ID

C537565;

UMLS CUI

C0265343;

Automatic exact mappings (from CISMeF team)
- Spondylocostal dysostosis 5 [OMIM Phenotype]
- Spondylocostal dysostosis, autosomal recessive [ICD-11 More detail]
Currated CISMeF NLP mapping
- Autosomal recessive spondylocostal dysostosis [ORDO Disease]
- Jarcho-Levin syndrome [PASCAL descriptor]
- Jarcho-Levin syndrome (disorder) [SNOMED CT concept]
- Spondylocostal Dysostosis [NCIt concept]
- Spondylocostal dysostosis [PASCAL descriptor]
- Spondylocostal dysostosis [OMIM phenotypic series]
- Spondylocostal dysostosis [ACR pathology]
- Spondylocostal dysostosis [ACR pathology]
- Spondylocostal dysostosis 1, autosomal recessive [OMIM Phenotype]
- jarcho-levin syndrome [SNOMED Notion]
- spondylocostal dysostosis [DO Concept]
- spondylocostal dysostosis [Disease (Nov.)]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
- hernia, diaphragmatic [MeSH Descriptor]
ORDO relation(s)
- Autosomal recessive spondylocostal dysostosis [ORDO Disease]
Record concept(s)
- Jarcho-Levin syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jarcho-Levin syndrome [PASCAL descriptor]
- Jarcho-Levin syndrome [MedDRA LLT]
- Jarcho-Levin syndrome (disorder) [SNOMED CT concept]
- Spondylocostal Dysostosis [NCIt 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.)]

Keyword's position in hierarchy(ies) :

Main resources

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