Orofaciodigital Syndrome Type 6

Preferred Label : Orofaciodigital Syndrome Type 6;

NCIt synonyms : Varadi-Papp Syndrome;

NCIt definition : A rare, autosomal recessive syndrome characterized by orofacial anomalies, metacarpal abnormalities with central polydactyly, and cerebellar dysgenesis.;

Details

Origin ID

C124841;

UMLS CUI

C2745997;

Currated CISMeF NLP mapping
- Joubert syndrome with orofaciodigital defect [DO Concept]
- Joubert syndrome with orofaciodigital defect (disorder) [SNOMED CT concept]
- Oral-facial-digital syndrome type 6 [ICD-11 More detail]
- Orofaciodigital syndrome 6 [MeSH concept]
- Orofaciodigital syndrome VI [OMIM Phenotype]
- Orofaciodigital syndrome type 6 [ORDO Disease]
- orofaciodigital syndrome 6 [MeSH Supplementary Concept]
DO Cross reference
- Joubert syndrome with orofaciodigital defect [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome with orofaciodigital defect [DO Concept]
- Joubert syndrome with orofaciodigital defect (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome 6 [MeSH concept]
- Orofaciodigital syndrome VI [OMIM Phenotype]
- Orofaciodigital syndrome type 6 [ORDO Disease]
- orofaciodigital syndrome 6 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CPLANE1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients