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Descriptor English: Rothmund-Thomson Syndrome
Descriptor Spanish: Síndrome Rothmund-Thomson
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
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
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.
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
Public MeSH Note: 2006; see POIKILODERMA CONGENITALE 1991-2005, see SKIN DISEASES 1964-1990
History Note: 2006 (1964)
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
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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