Rothmund-Thomson Syndrome

Preferred Label : Rothmund-Thomson Syndrome;

NCIt synonyms : RTS; Rothmund Thomson Syndrome;

NCIt related terms : Rothmund-Thompson Syndrome;

NCIt definition : An autosomal recessive inherited syndrome usually caused by mutations in the RECQL4 gene. It is characterized by poikilodermatous skin changes, sparse hair, cataracts, small stature, skeletal abnormalities, and an increased predisposition to cancer, particularly osteosarcoma.;

Alternative definition : NCI-GLOSS: A rare inherited disorder that affects the skin and many other parts of the body, including the bones, eyes, nose, hair, nails, teeth, testes, and ovaries. People with Rothmund-Thomson syndrome have an increased risk of osteosarcoma (bone cancer).;

Codes from synonyms : CDR0000662025; CDR0000662024;

Details

Origin ID

C3335;

UMLS CUI

C0032339;

Currated CISMeF NLP mapping
- Congenital poikiloderma [MedDRA Preferred Term]
- Rothmund Thomson syndrome [Disease (Nov.)]
- Rothmund-Thomson syndrome [PASCAL descriptor]
- Rothmund-Thomson syndrome [DO Concept]
- 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]
- rothmund-thomson syndrome [SNOMED Notion]
DO Cross reference
- Rothmund-Thomson syndrome [DO Concept]
False automatic mappings
- CREB binding protein [ORDO Gene]
- Rett syndrome [OMIM Phenotype]
Has associated anatomic sites
- Integumentary System [NCIt 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 [ORDO Disease]
- Rothmund-Thomson syndrome [PASCAL descriptor]
- Rothmund-Thomson syndrome [DO Concept]
- Rothmund-Thomson syndrome [MeSH concept]
- Rothmund-Thomson syndrome [MedDRA LLT]
- Rothmund-Thomson syndrome (disorder) [SNOMED CT concept]
- Rothmund-thomson syndrome, type 2 [OMIM Phenotype]
- rothmund-thomson syndrome [MeSH Descriptor]
- rothmund-thomson syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Rothmund-thomson syndrome, type 2 [OMIM Phenotype]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
disease_has_associated_disease
- Hypogonadism [NCIt concept]
- Poikiloderma [NCIt concept]
- Skin Atrophy [NCIt concept]
- Telangiectasia [NCIt concept]
disease_has_finding
- Alopecia [NCIt concept]
- Cutaneous Involvement [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Rare Lesion [NCIt concept]
- Skin Photosensitivity [NCIt concept]
- Skin Rash [NCIt concept]
related_to_genetic_biomarker
- RECQL4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients