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Descriptor English: | Pycnodysostosis | ||||
Descriptor Spanish: |
Picnodisostosis
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Descriptor Portuguese: | Picnodisostose | ||||
Descriptor French: | Pycnodysostose | ||||
Entry term(s): |
Maladie de Toulouse-Lautrec |
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Tree number(s): |
C05.116.099.708.779 C16.320.565.595.800 C16.320.812 C18.452.648.595.800 |
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RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D058631 | ||||
Scope note: | Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K. |
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Allowable Qualifiers: |
BL sang CF liquide cérébrospinal CI induit chimiquement CL classification CO complications DG imagerie diagnostique DH diétothérapie DI diagnostic DT traitement médicamenteux EC économie EH ethnologie EM embryologie EN enzymologie EP épidémiologie ET étiologie GE génétique HI histoire IM immunologie ME métabolisme MI microbiologie MO mortalité NU soins infirmiers PA anatomopathologie PC prévention et contrôle PP physiopathologie PS parasitologie PX psychologie RH rééducation et réadaptation RT radiothérapie SU chirurgie TH thérapie UR urine VE médecine vétérinaire VI virologie |
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DeCS ID: | 53947 | ||||
Unique ID: | D058631 | ||||
Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
Date Established: | 2011/01/01 | ||||
Date of Entry: | 2010/06/25 | ||||
Revision Date: | 2012/07/03 |
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Pycnodysostose
- Preferred
Concept UI |
M0530711 |
Preferred term | Pycnodysostose |
Entry term(s) |
Maladie de Toulouse-Lautrec |
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