Hardcastle's Syndrome

Preferred Label : Hardcastle's Syndrome;

NCIt synonyms : DMS-MFH; Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma;

NCIt definition : A rare, autosomal dominant inherited dysplasia of the long bones, characterized by symmetrical diaphyseal medullary stenosis, bone infarctions, pathologic fractures, and a high risk of development of malignant fibrous histiocytoma.;

Détails

Origin ID

C122660;

UMLS CUI

C1862177;

Currated CISMeF NLP mapping
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma [OMIM Phenotype]
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma [MeSH concept]
- Diaphyseal medullary stenosis-bone malignancy syndrome [ORDO Disease]
- diaphyseal medullary stenosis with malignant fibrous histiocytoma [MeSH Supplementary Concept]
- diaphyseal medullary stenosis with malignant fibrous histiocytoma [DO Concept]
DO Cross reference
- diaphyseal medullary stenosis with malignant fibrous histiocytoma [DO Concept]
See also inter- (CISMeF)
- Diaphyseal medullary stenosis with bone malignancy (disorder) [SNOMED CT concept]
- myopathy, limb-girdle, with bone fragility [MeSH Supplementary Concept]
- myopathy, limb-girdle, with bone fragility [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma [OMIM Phenotype]
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma [MeSH concept]
- diaphyseal medullary stenosis with malignant fibrous histiocytoma [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- MTAP Gene [NCIt concept]

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

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