roberts syndrome

Preferred Label : roberts syndrome;

MeSH synonym : long bone deficiencies associated with cleft lip-palate; sc phocomelia syndrome; sc pseudothalidomide syndrome; Appelt-Gerken-Lenz syndrome; pseudothalidomide syndrome; Roberts-Sc phocomelia syndrome; sc syndrome; Tetraphocomelia-Cleft palate syndrome; hypomelia hypotrichosis facial hemangioma syndrome;

Details

Origin ID

C535687;

UMLS CUI

C0392475;

Currated CISMeF NLP mapping
- Roberts Syndrome [NCIt concept]
- Roberts syndrome [ICD-11 More detail]
- Roberts syndrome [DO Concept]
- Roberts syndrome [ORDO Disease]
- Roberts-SC Phocomelia Syndrome [NCIt concept]
- Roberts-SC phocomelia syndrome (disorder) [SNOMED CT concept]
- Roberts-sc phocomelia syndrome [OMIM Phenotype]
- Sc phocomelia syndrome [OMIM Phenotype]
- roberts-sc phocomelia syndrome [SNOMED Notion]
DO Cross reference
- Roberts syndrome [DO Concept]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- ectromelia [MeSH Descriptor]
- hypertelorism [MeSH Descriptor]
ORDO relation(s)
- Roberts syndrome [ORDO Disease]
Record concept(s)
- Roberts Syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudothalidomide syndrome [MedDRA LLT]
- Roberts Syndrome [NCIt concept]
- Roberts syndrome [ORDO Disease]
- Roberts syndrome [DO Concept]
- Roberts syndrome [MedDRA Preferred Term]
- Roberts-SC Phocomelia Syndrome [NCIt concept]
- Roberts-SC phocomelia syndrome (disorder) [SNOMED CT concept]
- Roberts-sc phocomelia syndrome [OMIM Phenotype]
- Sc phocomelia syndrome [OMIM Phenotype]
- roberts-sc phocomelia syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients