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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Preferred Name | Rothmund-Thomson Syndrome [Disease/Finding] | |
| Synonyms |
Poikiloderma Atrophicans and Cataract Poikiloderma of Rothmund-Thomson Congenital Poikiloderma Poikiloderma Congenitale Rothmund-Thomson Syndrome Poikiloderma Congenitale of Rothmund-Thomson |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000171676 |
|
| altLabel |
Poikiloderma Atrophicans and Cataract Poikiloderma of Rothmund-Thomson Congenital Poikiloderma Poikiloderma Congenitale Rothmund-Thomson Syndrome Poikiloderma Congenitale of Rothmund-Thomson
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|
| cui |
C0032339
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| MESH 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.
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| MESH DUI |
D011038
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|
| MeSH name |
Rothmund-Thomson Syndrome
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|
| MESH UI |
M0017095
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| NDFRT kind |
DISEASE_KIND
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|
| notation |
N0000171676
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|
| NUI |
N0000171676
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|
| prefLabel |
Rothmund-Thomson Syndrome [Disease/Finding]
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| SNOMED CID |
69093006
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|
| tui |
T047
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| subClassOf |
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