spondyloepimetaphyseal dysplasia, sponastrime type

Preferred Label : spondyloepimetaphyseal dysplasia, sponastrime type;

MeSH note : Short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation;

MeSH synonym : sponastrime dysplasia; spondylar and nasal alterations with striated metaphyses;

Details

Origin ID

C535786;

UMLS CUI

C1300260;

CISMeF manual mappings
- SPONASTRIME dysplasia [ORDO Disease]
- Sponastrime dysplasia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome [NCIt concept]
- Spondylar and nasal alterations with striated metaphyses dysplasia [ICD-11 More detail]
- Spondyloepimetaphyseal Dysplasia, Sponastrime Type [NCIt concept]
- Spondyloepimetaphyseal dysplasia, sponastrime type [OMIM Phenotype]
- spondyloepimetaphyseal dysplasia, Sponastrime type [DO Concept]
Has phenotype(s) (HPO)
- Anterior beaking of vertebral bodies [HPO term]
- Flattened nasal bridge [HPO term]
- Short limb dwarfism [HPO term]
- Short, upturned nose [HPO term]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Spondyloepimetaphyseal dysplasia, sponastrime type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SPONASTRIME dysplasia [ORDO Disease]
- Sponastrime dysplasia (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal Dysplasia, Sponastrime Type [NCIt concept]
- Spondyloepimetaphyseal dysplasia, sponastrime type [OMIM Phenotype]

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