Robinow Syndrome

Preferred Label : Robinow Syndrome;

CISMeF synonym : robinow syndrome, autosomal dominant;

MeSH synonym : acral dysostosis with facial and genital abnormalities; fetal face syndrome; robinow dwarfism; Robinow-Silverman-Smith syndrome; mesomelic Dwarfism-Small genitalia syndrome;

Details

Origin ID

C562492;

UMLS CUI

C0265205;

Currated CISMeF NLP mapping
- Autosomal dominant Robinow syndrome [ICD-11 More detail]
- Autosomal dominant Robinow syndrome [ORDO Disease]
- Robinow Syndrome [NCIt concept]
- Robinow syndrome [PASCAL descriptor]
- Robinow syndrome [DO Concept]
- Robinow syndrome [Disease (Nov.)]
- Robinow syndrome [MedDRA Preferred Term]
- Robinow syndrome [OMIM phenotypic series]
- Robinow syndrome [ORDO Disease]
- Robinow syndrome (disorder) [SNOMED CT concept]
- robinow syndrome [SNOMED Notion]
DO Cross reference
- Robinow syndrome [DO Concept]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
- urogenital abnormalities [MeSH Descriptor]
Record concept(s)
- Robinow Syndrome [MeSH concept]
- Robinow Syndrome, Autosomal Dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Robinow syndrome [ORDO Disease]
- Robinow Syndrome [NCIt concept]
- Robinow syndrome [DO Concept]
- Robinow syndrome [Disease (Nov.)]
- Robinow syndrome [ORDO Disease]
- Robinow syndrome [PASCAL descriptor]
- Robinow syndrome [MedDRA Preferred Term]
- Robinow syndrome (disorder) [SNOMED CT concept]
- robinow syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Autosomal dominant Robinow syndrome (disorder) [SNOMED CT concept]
- Robinow syndrome, autosomal dominant 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Robinow syndrome [Disease (Nov.)]
- Robinow syndrome [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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