| Descriptor English: | Camurati-Engelmann Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Camurati-Engelmann
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| Descriptor Portuguese: | Síndrome de Camurati-Engelmann | ||||||
| Descriptor French: | Syndrome de Camurati-Engelmann | ||||||
| Entry term(s): |
Camurati Engelmann Disease Camurati Engelmann Syndrome Camurati-Engelmann Disease Diaphyseal Dysplasia 1, Progressive Diaphyseal Dysplasia, Progressive Diaphyseal Dysplasias, Progressive Diaphyseal Hyperostoses Diaphyseal Hyperostosis Dysplasia, Progressive Diaphyseal Dysplasias, Progressive Diaphyseal Engelmann Disease Engelmann's Disease Hyperostoses, Diaphyseal Hyperostosis, Diaphyseal Progressive Diaphyseal Dysplasia |
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| Tree number(s): |
C05.116.099.708.180 C16.320.144 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D003966 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2007; see OSTEOCHONDRODYSPLASIAS 1985-1990, see BONE DISEASES, DEVELOPMENTAL 1975-1984 |
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| History Note: | 2007(1975) |
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| DeCS ID: | 3993 | ||||||
| Unique ID: | D003966 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1974/11/11 | ||||||
| Revision Date: | 2018/07/02 |
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Camurati-Engelmann Syndrome
- Preferred
| Concept UI |
M0006211 |
| Scope note | 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. |
| Preferred term | Camurati-Engelmann Syndrome |
| Entry term(s) |
Camurati Engelmann Disease Camurati Engelmann Syndrome Camurati-Engelmann Disease Diaphyseal Dysplasia 1, Progressive Diaphyseal Dysplasia, Progressive Diaphyseal Dysplasias, Progressive Diaphyseal Hyperostoses Diaphyseal Hyperostosis Dysplasia, Progressive Diaphyseal Dysplasias, Progressive Diaphyseal Engelmann Disease Engelmann's Disease Hyperostoses, Diaphyseal Hyperostosis, Diaphyseal Progressive Diaphyseal Dysplasia |
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