Fibrodysplasia Ossificans Progressiva

Preferred Label : Fibrodysplasia Ossificans Progressiva;

NCIt synonyms : Myositis Ossificans Progressiva;

NCIt definition : A condition in which there is progressive heterotopic bone formation of the tendons and muscles.;

Alternative definition : NICHD: An autosomal recessive disorder of connective tissue caused by mutation(s) in the ACVR1 gene, encoding activin receptor type-1. This condition is characterized by congenital malformations of the great toes and progressive ossification of skeletal muscle, fascia, tendons, and ligaments.;

Details

Origin ID

C3040;

UMLS CUI

C0016037;

Automatic exact mappings (from CISMeF team)
- Myositis ossificans progressiva | other [ICD-10 Subdivision (who)]
- myositis ossificans [MeSH Descriptor]
Currated CISMeF NLP mapping
- Fibrodysplasia ossificans progressiva [ICD-11 Subcategory]
- Fibrodysplasia ossificans progressiva [MedDRA Preferred Term]
- Fibrodysplasia ossificans progressiva [OMIM Phenotype]
- Fibrodysplasia ossificans progressiva [ORDO Disease]
- Myositis ossificans progressiva [PASCAL descriptor]
- Myositis ossificans progressiva [ICD-10 Sub-category]
- Myositis ossificans progressiva [ICD-10 Sub-category (who)]
- Progressive myositis ossificans [MedDRA LLT]
- Progressive myositis ossificans (disorder) [SNOMED CT concept]
- fibrodysplasia ossificans progressiva [DO Concept]
- fibrodysplasia ossificans progressiva [Disease (Nov.)]
- fibrodysplasia ossificans progressiva [MeSH concept]
- progressive myositis ossificans [SNOMED Notion]
DO Cross reference
- fibrodysplasia ossificans progressiva [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fibrodysplasia ossificans progressiva [ORDO Disease]
- Fibrodysplasia ossificans progressiva [MedDRA Preferred Term]
- Fibrodysplasia ossificans progressiva [OMIM Phenotype]
- Fibrodysplasia ossificans progressiva [ICD-11 Subcategory]
- Myositis ossificans progressiva [ICD-10 Sub-category]
- Myositis ossificans progressiva [PASCAL descriptor]
- Myositis ossificans progressiva [ICD-10 Sub-category (who)]
- Myositis ossificans progressiva, unspecified site [ICD-10 Subdivision]
- Progressive myositis ossificans [ICD-9 code]
- Progressive myositis ossificans [MedDRA LLT]
- Progressive myositis ossificans (disorder) [SNOMED CT concept]
- fibrodysplasia ossificans progressiva [DO Concept]
- fibrodysplasia ossificans progressiva [Disease (Nov.)]
- fibrodysplasia ossificans progressiva [MeSH concept]
- progressive myositis ossificans [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_disease
- Hallux Valgus [NCIt concept]
disease_has_associated_gene
- BMP2 Gene [NCIt concept]
- BMP2 wt Allele [NCIt concept]
disease_has_finding
- Ossification [NCIt concept]
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ACVR1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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