spondylometaepiphyseal dysplasia, short Limb-Hand type

Preferred Label : spondylometaepiphyseal dysplasia, short Limb-Hand type;

MeSH synonym : SMED, short Limb-Abnormal calcification type; SMED, short Limb-Hand type; spondylometaepiphyseal dysplasia, short Limb-Abnormal calcification type; SMED type II;

Details

Origin ID

C564794;

UMLS CUI

C1849011;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ORDO Disease]
- Spondylometaepiphyseal dysplasia, short limb-hand type [OMIM Phenotype]
MeSH term(s) associated for indexing
- dwarfism [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- spondylometaepiphyseal dysplasia, short Limb-Hand type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ORDO Disease]
- Spondylometaepiphyseal dysplasia, short limb-hand type [OMIM Phenotype]
- spondylometaepiphyseal dysplasia, short limb-hand type [DO Concept]

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