| 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): |
Congenital Poikiloderma Congenitale, Poikiloderma Congenitales, Poikiloderma Poikiloderma Atrophicans and Cataract Poikiloderma Congenitale Poikiloderma Congenitale of Rothmund-Thomson Poikiloderma Congenitales Poikiloderma of Rothmund Thomson Poikiloderma of Rothmund-Thomson Rothmund Thomson Syndrome Rothmund-Thomson Poikiloderma Rothmund-Thomson Poikilodermas Syndrome, 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 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: | 2006; see POIKILODERMA CONGENITALE 1991-2005, see SKIN DISEASES 1964-1990 |
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| History Note: | 2006 (1964) |
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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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Rothmund-Thomson Syndrome
- Preferred
| Concept UI |
M0017095 |
| 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. |
| Preferred term | Rothmund-Thomson Syndrome |
| Entry term(s) |
Congenital Poikiloderma Congenitale, Poikiloderma Congenitales, Poikiloderma Poikiloderma Atrophicans and Cataract Poikiloderma Congenitale Poikiloderma Congenitale of Rothmund-Thomson Poikiloderma Congenitales Poikiloderma of Rothmund Thomson Poikiloderma of Rothmund-Thomson Rothmund Thomson Syndrome Rothmund-Thomson Poikiloderma Rothmund-Thomson Poikilodermas Syndrome, Rothmund-Thomson |
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