spondylometaphyseal dysplasia, sedaghatian type

Preferred Label : spondylometaphyseal dysplasia, sedaghatian type;

MeSH synonym : lethal metaphyseal dysplasia; metaphyseal chondrodysplasia, congenital lethal; sedaghatian chondrodysplasia;

Détails

Origin ID

C535798;

UMLS CUI

C1855229;

Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia, Sedaghatian type [ICD-11 More detail]
- Spondylometaphyseal dysplasia, Sedaghatian type [ORDO Disease]
- Spondylometaphyseal dysplasia, sedaghatian type [OMIM Phenotype]
Has phenotype(s) (HPO)
- Abnormality of cardiac conduction [HPO term]
- Flattened nasal bridge [HPO term]
- Horizontal acetabular roof [HPO term]
- Redundant skin folds [HPO term]
- Rhizomelic shortening [HPO term]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Spondylometaphyseal dysplasia, Sedaghatian type [ORDO Disease]
Record concept(s)
- Spondylometaphyseal dysplasia, Sedaghatian type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia, Sedaghatian type [ORDO Disease]
- Spondylometaphyseal dysplasia, Sedaghatian type [ICD-11 More detail]
- Spondylometaphyseal dysplasia, sedaghatian type [OMIM Phenotype]
- spondylometaphyseal dysplasia Sedaghatian type [DO Concept]

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