Osteopetrosis - CISMeF

Preferred Label : Osteopetrosis;

NCIt definition : A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. It is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. It manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis.;

Alternative definition : NICHD: A group of bone disorders caused by autosomal dominant or recessive mutation(s) in multiple genes involved in osteoclast function, including TCIRG1, CLCN7, OSTM1, SNX10, and PLEKHM1. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it can also be associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment.;

Details

Origin ID

C26840;

UMLS CUI

C0029454;

Automatic exact mappings (from CISMeF team)
- Osteopetrosis [ACR pathology]
- Osteopetrosis [ACR pathology]
Currated CISMeF NLP mapping
- Albers Schoenberg disease [Disease (Nov.)]
- Albers-Schonberg disease [MedDRA LLT]
- Albers-Schönberg osteopetrosis [ORDO Disease]
- Osteopetrosis [PASCAL descriptor]
- Osteopetrosis [ICD-10 Sub-category]
- Osteopetrosis [ICD-11 Sub-sub category]
- Osteopetrosis [ICD-9 code]
- Osteopetrosis [ICD-10 Sub-category (who)]
- Osteopetrosis [HPO term]
- Osteopetrosis [MedDRA Preferred Term]
- Osteopetrosis (disorder) [SNOMED CT concept]
- Osteopetrosis and related disorders [ORDO Disease]
- Osteopetrosis, autosomal dominant 2 [OMIM Phenotype]
- infantile malignant osteopetrosis [SNOMED Notion]
- osteopetrosis [DO Concept]
- osteopetrosis [MeSH Descriptor]
- osteopetrosis [MeSH concept]
- osteopetrosis [Radlex concept]
- osteopetrosis autosomal dominant type 2 [MeSH concept]
- osteopetrosis, nos [SNOMED Notion]
DO Cross reference
- osteopetrosis [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)
- Albers-Schonberg disease [MedDRA LLT]
- Marble bone disease [MedDRA LLT]
- Osteopetrosis [ICD-10 Sub-category]
- Osteopetrosis [HPO term]
- Osteopetrosis [ICD-9 code]
- Osteopetrosis [ICD-11 Sub-sub category]
- Osteopetrosis [ICD-10 Sub-category (who)]
- Osteopetrosis [MedDRA Preferred Term]
- Osteopetrosis (disorder) [SNOMED CT concept]
- Osteopetrosis and related disorders [ORDO Disease]
- osteopetrosis [Radlex concept]
- osteopetrosis [DO Concept]
- osteopetrosis [MeSH concept]
- osteopetrosis [MeSH Descriptor]
- osteopetrosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Autosomal dominant osteopetrosis type 2 [ICD-11 More detail]
- autosomal dominant osteopetrosis 2 [DO Concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]

Keyword's position in hierarchy(ies) :

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