Schimke Immunoosseous Dysplasia

Preferred Label : Schimke Immunoosseous Dysplasia;

NCIt synonyms : Schimke Immuno-Osseous Dysplasia;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SMARCAL1 gene, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1. It is characterized by short stature, intrauterine growth restriction, microdontia, depressed nasal bridge, skeletal dysplasia, immune complex nephritis and immune deficiency.;

Détails

Origin ID

C135087;

UMLS CUI

C0877024;

Currated CISMeF NLP mapping
- Schimke immuno bone dysplasia [Disease (Nov.)]
- Schimke immuno-osseous dysplasia [ORDO Disease]
- Schimke immuno-osseous dysplasia [ICD-11 More detail]
- 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]
DO Cross reference
- Schimke immuno-osseous dysplasia [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Schimke immuno bone dysplasia [Disease (Nov.)]
- Schimke immuno-osseous dysplasia [ORDO Disease]
- Schimke immuno-osseous dysplasia [DO Concept]
- Schimke immuno-osseous dysplasia [ICD-11 More detail]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SMARCAL1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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