Osteopoikilosis

Preferred Label : Osteopoikilosis;

NCIt definition : A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.;

Details

Origin ID

C84985;

UMLS CUI

C0029455;

Automatic exact mappings (from CISMeF team)
- Other specified osteochondrodysplasias [ICD-10 Sub-category (who)]
- Other specified osteochondrodysplasias [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Osteopoikilosis [PASCAL descriptor]
- Osteopoikilosis [ICD-11 Sub-sub category]
- Osteopoikilosis [ICD-9 code]
- Osteopoikilosis [HPO term]
- Osteopoikilosis [MedDRA Preferred Term]
- Osteopoikilosis (disorder) [SNOMED CT concept]
- osteopoikilosis [DO Concept]
- osteopoikilosis [Disease (Nov.)]
- osteopoikilosis [MeSH Descriptor]
- osteopoikilosis [MeSH concept]
- osteopoikilosis [SNOMED Notion]
DO Cross reference
- osteopoikilosis [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteopoikilosis [HPO term]
- Osteopoikilosis [PASCAL descriptor]
- Osteopoikilosis [ICD-9 code]
- Osteopoikilosis [ICD-11 Sub-sub category]
- Osteopoikilosis [MedDRA Preferred Term]
- Osteopoikilosis (disorder) [SNOMED CT concept]
- osteopoikilosis [DO Concept]
- osteopoikilosis [Disease (Nov.)]
- osteopoikilosis [MeSH concept]
- osteopoikilosis [MeSH Descriptor]
- osteopoikilosis [SNOMED Notion]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
related_to_genetic_biomarker
- LEMD3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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