rothmund-thomson syndrome

Preferred Label : rothmund-thomson syndrome;

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.;

MeSH synonym : syndrome, rothmund-thomson; poikiloderma of rothmund thomson; Rothmund-Thomson poikiloderma; poikiloderma atrophicans and cataract; congenitales, poikiloderma; congenitale, poikiloderma; poikiloderma congenitales; poikiloderma of Rothmund-Thomson; Rothmund-Thomson poikilodermas; poikiloderma congenitale; rothmund thomson syndrome; poikiloderma congenitale of Rothmund-Thomson; congenital poikiloderma;

CISMeF synonym : rothmund-thomson's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Rothmund-thomson syndrome;

Details

Origin ID

D011038;

UMLS CUI

C0032339;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Erythrokeratodermia variabilis (disorder) [SNOMED CT concept]
- Rothmund congenital poikiloderma [PASCAL descriptor]
Currated CISMeF NLP mapping
- Congenital poikiloderma [MedDRA Preferred Term]
- Rothmund Thomson syndrome [Disease (Nov.)]
- Rothmund-Thomson Syndrome [NCIt concept]
- Rothmund-Thomson syndrome [PASCAL descriptor]
- Rothmund-Thomson syndrome [DO Concept]
- Rothmund-Thomson syndrome [ICD-11 More detail]
- Rothmund-Thomson syndrome [ORDO Disease]
- Rothmund-Thomson syndrome [MedDRA LLT]
- Rothmund-Thomson syndrome (disorder) [SNOMED CT concept]
- Rothmund-thomson syndrome [OMIM phenotypic series]
- rothmund-thomson syndrome [SNOMED Notion]
DO Cross reference
- Rothmund-Thomson syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Dentocutaneous disease with cataract [ORDO Disease]
- Disease with potential neoplastic degeneration associated with ocular features [ORDO Disease]
- Ectodermal dysplasia syndrome [ORDO Disease]
- Ectodermal malformation syndrome associated with ocular features [ORDO Disease]
- Genetic photodermatosis [ORDO Disease]
- Non-chondrodysplastic malformation syndrome affecting bones [ORDO Disease]
- Primary bone dysplasia with decreased bone density [ORDO Disease]
- Progeroid syndrome [ORDO Disease]
- Rare photodermatosis [ORDO Disease]
- Zlotogura-Martinez syndrome [ORDO Disease]
ORDO relation(s)
- Rothmund-Thomson syndrome [ORDO Disease]
Record concept(s)
- Rothmund-Thomson syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- PARC syndrome [MeSH Supplementary Concept]
- navajo poikiloderma [MeSH Supplementary Concept]
- rapadilino syndrome [MeSH Supplementary Concept]
- skeletal dysplasia with telangiectases and mesodermal dysgenesis of the iris [MeSH Supplementary Concept]
- spastic paraplegia neuropathy poikiloderma [MeSH Supplementary Concept]
See also
- RecQ helicases [MeSH Descriptor]
See also inter- (CISMeF)
- erythrokeratodermia variabilis [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital poikiloderma [MedDRA Preferred Term]
- Rothmund Thomson syndrome [Disease (Nov.)]
- Rothmund-Thomson Syndrome [NCIt concept]
- Rothmund-Thomson syndrome [ORDO Disease]
- Rothmund-Thomson syndrome [DO Concept]
- Rothmund-Thomson syndrome [PASCAL descriptor]
- Rothmund-Thomson syndrome [MedDRA LLT]
- Rothmund-Thomson syndrome (disorder) [SNOMED CT concept]
- Rothmund-thomson syndrome, type 2 [OMIM Phenotype]
- rothmund-thomson syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Rothmund-thomson syndrome, type 1 [OMIM Phenotype]
- Rothmund-thomson syndrome, type 2 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Other specified congenital malformations of skin [ICD-10 Sub-category]

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