Spondylometaphyseal dysplasia, Sedaghatian type

Preferred Label : Spondylometaphyseal dysplasia, Sedaghatian type;

ICD-11 definition : Spondylometaphyseal dysplasia, Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.;

Details

Origin ID

975738106;

UMLS CUI

C1855229;

Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia, Sedaghatian type [ORDO Disease]
- Spondylometaphyseal dysplasia, Sedaghatian type [MeSH concept]
- Spondylometaphyseal dysplasia, sedaghatian type [OMIM Phenotype]
- spondylometaphyseal dysplasia, sedaghatian type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia, Sedaghatian type [MeSH concept]
- Spondylometaphyseal dysplasia, Sedaghatian type [ORDO Disease]
- Spondylometaphyseal dysplasia, sedaghatian type [OMIM Phenotype]
- spondylometaphyseal dysplasia Sedaghatian type [DO Concept]
- spondylometaphyseal dysplasia, sedaghatian type [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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