Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Preferred Label : Spondyloepimetaphyseal Dysplasia, Sponastrime Type;

NCIt synonyms : Short-Limb Dwarfism with Saddle Nose, Spinal Alterations, and Metaphyseal Striation; Sponastrime Dysplasia; Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome;

NCIt definition : A rare disorder characterized by severe short stature, lumbar lordosis, midface hypoplasia, micromelia, frontal bossing, epiphyseal and metaphyseal abnormalities. The inheritance is autosomal recessive.;

Details

Origin ID

C129031;

UMLS CUI

C1300260;

Currated CISMeF NLP mapping
- SPONASTRIME dysplasia [ORDO Disease]
- Sponastrime dysplasia (disorder) [SNOMED CT concept]
- Spondylar and nasal alterations with striated metaphyses dysplasia [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, sponastrime type [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia, sponastrime type [MeSH concept]
- spondyloepimetaphyseal dysplasia, Sponastrime type [DO Concept]
- spondyloepimetaphyseal dysplasia, sponastrime type [MeSH Supplementary 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 [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia, sponastrime type [MeSH concept]
- spondyloepimetaphyseal dysplasia, sponastrime type [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TONSL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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