Schimke immuno-osseous dysplasia

Preferred Label : Schimke immuno-osseous dysplasia;

ICD-11 definition : Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.;

ICD-11 synonym : Schimke syndrome; Spondyloepiphyseal dysplasia - nephrotic syndrome;

Details

Origin ID

2002226225;

UMLS CUI

C0877024;

Currated CISMeF NLP mapping
- Schimke Immunoosseous Dysplasia [NCIt concept]
- Schimke immuno bone dysplasia [Disease (Nov.)]
- Schimke immuno-osseous dysplasia [ORDO Disease]
- Schimke immuno-osseous dysplasia [DO Concept]
- Schimke immuno-osseous dysplasia (disorder) [SNOMED CT concept]
- Schimke immunoosseous dysplasia [OMIM Phenotype]
- Schimke immunoosseous dysplasia [MeSH concept]
- Schimke immunoosseous dysplasia [MedDRA Preferred Term]
- schimke immunoosseous dysplasia [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Schimke Immunoosseous Dysplasia [NCIt concept]
- Schimke immuno bone dysplasia [Disease (Nov.)]
- Schimke immuno-osseous dysplasia [DO Concept]
- Schimke immuno-osseous dysplasia [ORDO Disease]
- Schimke immuno-osseous dysplasia (disorder) [SNOMED CT concept]
- Schimke immunoosseous dysplasia [MedDRA Preferred Term]
- Schimke immunoosseous dysplasia [OMIM Phenotype]
- Schimke immunoosseous dysplasia [MeSH concept]
- schimke immunoosseous dysplasia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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