camurati-engelmann syndrome

Preferred Label : camurati-engelmann syndrome;

MeSH definition : An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.;

MeSH synonym : diaphyseal dysplasia, progressive; camurati engelmann disease; dysplasia, progressive diaphyseal; dysplasias, progressive diaphyseal; engelmann disease; camurati-engelmann disease; engelmann's disease; diaphyseal dysplasias, progressive; camurati engelmann syndrome; progressive diaphyseal dysplasia; diaphyseal hyperostosis; Diaphyseal Hyperostoses; Hyperostoses, Diaphyseal; Hyperostosis, Diaphyseal; Diaphyseal Dysplasia 1, Progressive;

CISMeF synonym : camurati-engelmann's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Camurati-engelmann syndrome;

Details

Origin ID

D003966;

UMLS CUI

C0011989;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- transforming growth factor beta 1 [ORDO Gene]
- transforming growth factor beta 1 [HGNC gene]
Currated CISMeF NLP mapping
- Camurati Engelmann disease [Disease (Nov.)]
- Camurati-Engelmann Syndrome [NCIt concept]
- Camurati-Engelmann disease [DO Concept]
- Camurati-Engelmann disease [ORDO Disease]
- Camurati-engelmann disease [OMIM Phenotype]
- Diaphyseal dysplasia [HPO term]
- Diaphyseal dysplasia (disorder) [SNOMED CT concept]
- Progressive diaphyseal dysplasia [PASCAL descriptor]
- Progressive diaphyseal dysplasia [ICD-10 Sub-category]
- Progressive diaphyseal dysplasia [ICD-11 More detail]
- Progressive diaphyseal dysplasia [ICD-10 Sub-category (who)]
- Progressive diaphyseal dysplasia [MedDRA Preferred Term]
- Progressive diaphyseal dysplasia (disorder) [SNOMED CT concept]
- diaphyseal dysplasia [SNOMED Notion]
DO Cross reference
- Camurati-Engelmann disease [DO Concept]
HPO term
- Diaphyseal dysplasia [HPO term]
- Diaphyseal sclerosis [HPO term]
Has phenotype(s) (HPO)
- Deafness [HPO term]
Manual NTBT mappings (CISMeF)
- Bone disease with increased bone density and metaphyseal or diaphyseal involvement [ORDO Disease]
- Non-chondrodysplastic malformation syndrome affecting bones [ORDO Disease]
MeSH Descriptor(s) used for indexing
- transforming growth factor beta1 [MeSH Descriptor]
ORDO relation(s)
- Camurati-Engelmann disease [ORDO Disease]
Record concept(s)
- Camurati-Engelmann syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Camurati-Engelmann disease, type II [MeSH Supplementary Concept]
- camurati engelmann disease, type 2 [MeSH Supplementary Concept]
- ribbing disease [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Camurati Engelmann disease [Disease (Nov.)]
- Camurati-Engelmann Syndrome [NCIt concept]
- Camurati-Engelmann disease [ORDO Disease]
- Camurati-Engelmann disease [DO Concept]
- Camurati-Engelmann disease [MedDRA LLT]
- 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 [ICD-10 Sub-category (who)]
- Progressive diaphyseal dysplasia [MedDRA Preferred Term]
- Progressive diaphyseal dysplasia (disorder) [SNOMED CT concept]
- diaphyseal dysplasia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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