Rothmund-Thomson Syndrome Type 1

Preferred Label : Rothmund-Thomson Syndrome Type 1;

NCIt definition : Rothmund-Thomson syndrome characterized by the absence of RECQL4 gene mutations.;

NCI Metathesaurus CUI : CL1402452;

Details

Origin ID

C178826;

UMLS CUI

C5231433;

Currated CISMeF NLP mapping
- Rothmund Thomson syndrome type 1 (disorder) [SNOMED CT concept]
- Rothmund-Thomson syndrome type 1 [ICD-11 More detail]
- Rothmund-Thomson syndrome type 1 [ORDO Disease]
- Rothmund-thomson syndrome, type 1 [OMIM Phenotype]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rothmund Thomson syndrome type 1 (disorder) [SNOMED CT concept]
- Rothmund-thomson syndrome, type 1 [OMIM Phenotype]
disease_excludes_molecular_abnormality
- RECQL4 Gene Mutation [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]
disease_may_have_associated_disease
- Juvenile Cataract [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients