Roberts Syndrome

Preferred Label : Roberts Syndrome;

NCIt definition : A rare, autosomal recessive inherited syndrome caused by mutations in the ESCO2 gene. It is characterized by limb and facial abnormalities and slow growth. Intellectual impairment occurs in approximately half of the affected individuals.;

NCI Metathesaurus CUI : CL504896;

Details

Origin ID

C126326;

UMLS CUI

C0392475;

Currated CISMeF NLP mapping
- Roberts Syndrome [MeSH concept]
- Roberts syndrome [DO Concept]
- Roberts syndrome [ICD-11 More detail]
- Roberts syndrome [ORDO Disease]
- Roberts-SC phocomelia syndrome (disorder) [SNOMED CT concept]
- Roberts-sc phocomelia syndrome [OMIM Phenotype]
- Sc phocomelia syndrome [OMIM Phenotype]
- roberts syndrome [MeSH Supplementary Concept]
- roberts-sc phocomelia syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudothalidomide syndrome [MedDRA LLT]
- Roberts Syndrome [MeSH concept]
- Roberts syndrome [ORDO Disease]
- Roberts syndrome [DO Concept]
- Roberts syndrome [MedDRA Preferred Term]
- Roberts-SC phocomelia syndrome (disorder) [SNOMED CT concept]
- Roberts-sc phocomelia syndrome [OMIM Phenotype]
- Sc phocomelia syndrome [OMIM Phenotype]
- roberts syndrome [MeSH Supplementary Concept]
- roberts-sc phocomelia syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- ESCO2 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- ESCO2 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- ESCO2 Gene [NCIt concept]
- ESCO2 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients