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Descriptor English: | CHARGE Syndrome | ||||||
Descriptor Spanish: |
Síndrome CHARGE
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Descriptor Portuguese: | Síndrome CHARGE | ||||||
Descriptor French: | Syndrome CHARGE | ||||||
Entry term(s): |
Association CHARGE Forme familiale du syndrome CHARGE Syndrome CHARGE familial Syndrome de Hall-Hittner |
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Tree number(s): |
C09.218.458.341.186.500.250 C10.597.751.418.341.186.500.250 C10.597.751.941.162.625.250 C11.270.147.500 C11.966.075.375.250 C16.131.077.299.250 C16.320.165 C23.888.592.763.393.341.186.500.500 C23.888.592.763.941.162.625.500 |
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RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D058747 | ||||||
Scope note: | Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome. |
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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: | 53996 | ||||||
Unique ID: | D058747 | ||||||
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: | 2018/06/15 |
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Syndrome CHARGE
- Preferred
Syndrome CHARGE familial
- Narrower
Concept UI |
M0530381 |
Preferred term | Syndrome CHARGE |
Entry term(s) |
Association CHARGE Syndrome de Hall-Hittner |
Concept UI |
M0544391 |
Preferred term | Syndrome CHARGE familial |
Entry term(s) |
Forme familiale du syndrome CHARGE |
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