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Medical Subject Headings
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/D011038
http://purl.bioontology.org/ontology/MESH/D011038
|
|---|---|
| Preferred Name | Rothmund-Thomson Syndrome |
| Definitions |
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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| Synonyms |
Syndrome, Rothmund-Thomson
Congenitales, Poikiloderma
Poikiloderma Atrophicans and Cataract
Rothmund-Thomson Poikiloderma
Rothmund Thomson Syndrome
Poikiloderma of Rothmund-Thomson
Rothmund-Thomson Poikilodermas
Poikiloderma of Rothmund Thomson
Congenital Poikiloderma
Poikiloderma Congenitale
Congenitale, Poikiloderma
Poikiloderma Congenitale of Rothmund-Thomson
Poikiloderma Congenitales
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
|---|---|
| altLabel |
Syndrome, Rothmund-Thomson
Congenitales, Poikiloderma
Poikiloderma Atrophicans and Cataract
Rothmund-Thomson Poikiloderma
Rothmund Thomson Syndrome
Poikiloderma of Rothmund-Thomson
Rothmund-Thomson Poikilodermas
Poikiloderma of Rothmund Thomson
Congenital Poikiloderma
Poikiloderma Congenitale
Congenitale, Poikiloderma
Poikiloderma Congenitale of Rothmund-Thomson
Poikiloderma Congenitales
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| prefLabel |
Rothmund-Thomson Syndrome
|
| TH |
OMIM (2013)
NLM (1993)
NLM (2010)
GHR (2014)
NLM (1964)
NLM (2014)
ORD (2010)
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| notation |
D011038
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| DX |
19910101
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| Machine permutation |
2006; see POIKILODERMA CONGENITALE 1991-2005, see SKIN DISEASES 1964-1990
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| MN |
C16.614.760
C16.320.850.765
C16.131.831.775
C17.800.804.775
C17.800.827.775
C18.452.284.760
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| MMR |
20150618
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| Mapped from | |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
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| HN |
2006 (1964)
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| subClassOf | |
| Semantic type UMLS property | |
| DC |
1
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| MDA |
19990101
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| Inverse of RO | |
| type | |
| tui |
T047
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| cui |
C0032339
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| Inverse of AQ |
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| TERMUI |
T749772
T842407
T749771
T842408
T032460
T032461
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