MeSH Browser

MeSH Heading: Rothmund-Thomson Syndrome
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
Unique ID: D011038
RDF Unique Identifier: http://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.
Entry Term(s): Congenital Poikiloderma; Poikiloderma Atrophicans and Cataract; Poikiloderma Congenitale; Poikiloderma Congenitale of Rothmund-Thomson; Poikiloderma of Rothmund-Thomson
Public MeSH Note: 2006; see POIKILODERMA CONGENITALE 1991-2005, see SKIN DISEASES 1964-1990
History Note: 2006 (1964)
Date Established: 1991/01/01
Date of Entry: 1999/01/01
Revision Date: 2015/06/18

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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.
Terms: Rothmund-Thomson Syndrome Preferred Term
Term UI T032461
Date01/22/1992
LexicalTag EPO
ThesaurusID; Poikiloderma Congenitale
Term UI T032460
Date01/01/1999
LexicalTag NON
ThesaurusID; Poikiloderma of Rothmund-Thomson
Term UI T749771
Date04/22/2009
LexicalTag NON
ThesaurusID; Poikiloderma Atrophicans and Cataract
Term UI T749772
Date04/22/2009
LexicalTag NON
ThesaurusID; Congenital Poikiloderma
Term UI T842407
Date04/18/2013
LexicalTag NON
ThesaurusID; Poikiloderma Congenitale of Rothmund-Thomson
Term UI T842408
Date04/18/2013
LexicalTag NON
ThesaurusID

Rothmund-Thomson Syndrome MeSH Descriptor Data 2024