Camurati-Engelmann Syndrome

Preferred Label : Camurati-Engelmann Syndrome;

NCIt related terms : Camurati-Englemann Disease; Progressive Diaphyseal Dysplasia;

NCIt definition : An autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene. It is characterized by thickening of the bones, particularly the long bones of the extremities. It is associated with muscle weakness and tiredness.;

Alternative definition : NICHD: An autosomal dominant form of craniotubular hyperostosis due to mutation(s) in the TGFB1 gene, encoding transforming growth factor beta-1. In addition to the long bone dysplasia, anemia, leukopenia, and hepatosplenomegaly may occur.;

Details

Origin ID

C84610;

UMLS CUI

C0011989;

Currated CISMeF NLP mapping
- Camurati Engelmann disease [Disease (Nov.)]
- Camurati-Engelmann disease [ORDO Disease]
- Camurati-Engelmann disease [DO Concept]
- Camurati-Engelmann syndrome [MeSH concept]
- Camurati-engelmann disease [OMIM Phenotype]
- Diaphyseal dysplasia [HPO term]
- Diaphyseal dysplasia (disorder) [SNOMED CT concept]
- Progressive diaphyseal dysplasia [ICD-10 Sub-category (who)]
- Progressive diaphyseal dysplasia [ICD-10 Sub-category]
- Progressive diaphyseal dysplasia [ICD-11 More detail]
- Progressive diaphyseal dysplasia [PASCAL descriptor]
- Progressive diaphyseal dysplasia [MedDRA Preferred Term]
- Progressive diaphyseal dysplasia (disorder) [SNOMED CT concept]
- camurati-engelmann syndrome [MeSH Descriptor]
- diaphyseal dysplasia [SNOMED Notion]
DO Cross reference
- Camurati-Engelmann disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Camurati Engelmann disease [Disease (Nov.)]
- Camurati-Engelmann disease [ORDO Disease]
- Camurati-Engelmann disease [DO Concept]
- Camurati-Engelmann disease [MedDRA LLT]
- Camurati-Engelmann syndrome [MeSH concept]
- Camurati-engelmann disease [OMIM Phenotype]
- Diaphyseal dysplasia [HPO term]
- Diaphyseal dysplasia (disorder) [SNOMED CT concept]
- Diaphyseal sclerosis [HPO term]
- Engelmann syndrome [MedDRA LLT]
- Progressive diaphyseal dysplasia [ICD-10 Sub-category]
- Progressive diaphyseal dysplasia [MedDRA Preferred Term]
- Progressive diaphyseal dysplasia [ICD-10 Sub-category (who)]
- Progressive diaphyseal dysplasia (disorder) [SNOMED CT concept]
- camurati-engelmann syndrome [MeSH Descriptor]
- diaphyseal dysplasia [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TGFB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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