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| Descriptor English: | Rothmund-Thomson Syndrome | ||||||
| Descriptor Spanish: |
Síndrome Rothmund-Thomson
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| Descriptor Portuguese: | Síndrome de Rothmund-Thomson | ||||||
| Descriptor French: | Syndrome de Rothmund-Thomson | ||||||
| Entry term(s): |
Poïkilodermie congénitale Poïkilodermie de Rothmund-Thomson |
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| Tree number(s): |
C16.131.831.775 C16.320.850.765 C16.614.760 C17.800.804.775 C17.800.827.775 C18.452.284.760 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D011038 | ||||||
| Scope note: | An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM. |
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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: | 11468 | ||||||
| Unique ID: | D011038 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2015/06/18 |
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Syndrome de Rothmund-Thomson
- Preferred
| Concept UI |
M0017095 |
| Preferred term | Syndrome de Rothmund-Thomson |
| Entry term(s) |
Poïkilodermie congénitale Poïkilodermie de Rothmund-Thomson |
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