metachondromatosis - CISMeF

CISMeF

chu

MetachondromatosisMeSH Supplementary Concept

Preferred Label : metachondromatosis;

MeSH note : mutation in PTPN11;

Details

Origin ID

C562938;

UMLS CUI

C0410530;

Automatic exact mappings (from CISMeF team)
- Metachondromatosis [ICD-11 More detail]
- metachondromatosis [DO Concept]
Currated CISMeF NLP mapping
- Metachondromatosis [OMIM Phenotype]
- Metachondromatosis [ORDO Disease]
- Metachondromatosis (disorder) [SNOMED CT concept]
- metachondromatosis [Disease (Nov.)]
DO Cross reference
- metachondromatosis [DO Concept]
MeSH term(s) associated for indexing
- bone neoplasms [MeSH Descriptor]
- chondromatosis [MeSH Descriptor]
- exostoses, multiple hereditary [MeSH Descriptor]
Record concept(s)
- metachondromatosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metachondromatosis [ORDO Disease]
- Metachondromatosis [OMIM Phenotype]
- Metachondromatosis (disorder) [SNOMED CT concept]
- metachondromatosis [Disease (Nov.)]
- metachondromatosis [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
01/05/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.