Roberts-SC Phocomelia Syndrome

Preferred Label : Roberts-SC Phocomelia Syndrome;

NCIt synonyms : Hypomelia Hypotrichosis Facial Hemangioma Syndrome; Pseudothalidomide Syndrome; Phocomelia-Pseudothalidomide Syndrome; SC Phocomelia Syndrome;

NCIt definition : A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. It is considered to be a mild variant of Roberts syndrome.;

Details

Origin ID

C4681;

UMLS CUI

C0392475;

Automatic exact mappings (from CISMeF team)
- Pseudothalidomide syndrome [MedDRA LLT]
- Roberts syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Roberts Syndrome [MeSH concept]
- Roberts syndrome [ICD-11 More detail]
- Roberts syndrome [DO Concept]
- 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]
DO Cross reference
- Roberts syndrome [DO Concept]
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
- Hereditary Lesion [NCIt concept]
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ESCO2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients