Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome

Preferred Label : Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome;

NCIt definition : A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.;

Details

Origin ID

C92206;

UMLS CUI

C0920349;

CISMeF manual mappings
- Spondyloepimetaphyseal dysplasia, sponastrime type [OMIM Phenotype]
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 [MeSH concept]
- spondyloepimetaphyseal dysplasia, Sponastrime type [DO Concept]
- spondyloepimetaphyseal dysplasia, sponastrime type [MeSH Supplementary Concept]
DO Cross reference
- spondyloepimetaphyseal dysplasia, Sponastrime type [DO Concept]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spondyloepimetaphyseal dysplasia, Sponastrime type [DO Concept]
Validated automatic mappings to NTBT
- Fanconi anemia [Disease (Nov.)]
disease_has_finding
- Hereditary Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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