rothmund-thomson syndrome - CISMeF

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CISMeF

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Rothmund-thomson syndromeSNOMED Notion

Preferred Label : rothmund-thomson syndrome;

Details

Origin ID

D4-00403;

UMLS CUI

C0032339;

Currated CISMeF NLP mapping
- Congenital poikiloderma [MedDRA Preferred Term]
- Rothmund Thomson syndrome [Disease (Nov.)]
- Rothmund-Thomson Syndrome [NCIt concept]
- Rothmund-Thomson syndrome [DO Concept]
- Rothmund-Thomson syndrome [PASCAL descriptor]
- Rothmund-Thomson syndrome [ICD-11 More detail]
- Rothmund-Thomson syndrome [MeSH concept]
- 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 [MeSH Descriptor]
ICD-10 exact mapping(s)
- Other specified congenital malformations of skin [ICD-10 Sub-category (who)]
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]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- skin, nos [SNOMED Notion]
SNOMED CT concept
- Rothmund-Thomson syndrome (disorder) [SNOMED CT concept]
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 [MeSH concept]
- 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 [MeSH Descriptor]
Validated automatic mappings to BTNT
- Rothmund-thomson syndrome, type 2 [OMIM Phenotype]

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23/05/2025

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