spondyloepiphyseal dysplasia tarda, toledo type

Preferred Label : spondyloepiphyseal dysplasia tarda, toledo type;

MeSH synonym : spondyloepiphyseal dysplasia, chondroitin sulfate type; brachyolmia, toledo type; toledo type brachyolmia; SED, chondroitin sulfate type; brachyolmia type 1, toledo type; Paps-Chondroitin sulfate sulfotransferase deficiency;

Details

Origin ID

C535787;

UMLS CUI

C1849048;

Automatic exact mappings (from CISMeF team)
- Brachyolmia type 1, Toledo type [MedDRA LLT]
CISMeF manual mappings
- Brachyolmia type 1 Toledo type (disorder) [Inactive SNOMED CT concept]
Currated CISMeF NLP mapping
- Brachyolmia type 1, Toledo type [ICD-11 More detail]
- Brachyolmia type 1, Toledo type [ORDO Disease]
- Brachyolmia type 1, toledo type [OMIM Phenotype]
- brachyolmia type 1 Toledo type [Disease (Nov.)]
MeSH term(s) associated for indexing
- corneal opacity [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
- spine [MeSH Descriptor]
Record concept(s)
- Spondyloepiphyseal dysplasia tarda, Toledo type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachyolmia type 1 Toledo type (disorder) [Inactive SNOMED CT concept]
- Brachyolmia type 1, Toledo type [ORDO Disease]
- Brachyolmia type 1, Toledo type [ICD-11 More detail]
- Brachyolmia type 1, Toledo type [MedDRA LLT]
- Brachyolmia type 1, toledo type [OMIM Phenotype]
- brachyolmia type 1 Toledo type [Disease (Nov.)]

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