Rothmund-Thomson Syndrome Type 2

Preferred Label : Rothmund-Thomson Syndrome Type 2;

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

NCI Metathesaurus CUI : CL1386143;

Details

Origin ID

C178827;

UMLS CUI

C5203410;

Currated CISMeF NLP mapping
- Rothmund Thomson syndrome type 2 (disorder) [SNOMED CT concept]
- Rothmund-Thomson syndrome type 2 [ICD-11 More detail]
- Rothmund-Thomson syndrome type 2 [ORDO Disease]
- Rothmund-thomson syndrome, type 2 [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 2 (disorder) [SNOMED CT concept]
- Rothmund-thomson syndrome, type 2 [OMIM Phenotype]
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_has_molecular_abnormality
- RECQL4 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- RECQL4 Gene [NCIt concept]
disease_may_have_associated_disease
- Osteosarcoma [NCIt concept]
- Skin Basal Cell Carcinoma [NCIt concept]
- Skin Squamous Cell Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- RECQL4 Gene [NCIt concept]
- RECQL4 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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