orofaciodigital syndrome type1

Preferred Label : orofaciodigital syndrome type1;

MeSH synonym : oral-facial-digital syndrome, type 1; Papillon-League-Psaume syndrome;

Origin ID

C537134;

UMLS CUI

C2931426;

Automatic exact mappings (from CISMeF team)
- OFD1 centriole and centriolar satellite protein [ORDO Gene]
CISMeF manual mappings
- Orofaciodigital syndrome type 1 [ORDO Disease]
Currated CISMeF NLP mapping
- Oral-facial-digital syndrome type 1 [ICD-11 More detail]
- Oro-facial digital syndrome type 1 (disorder) [SNOMED CT concept]
- Orofaciodigital Syndrome Type 1 [NCIt concept]
- Orofaciodigital syndrome [ORDO Disease]
- Orofaciodigital syndrome [PASCAL descriptor]
- Orofaciodigital syndrome I [OMIM Phenotype]
- oral-facial-digital syndrome [SNOMED Notion]
- orofaciodigital syndrome [DO Concept]
- orofaciodigital syndrome I [DO Concept]
- orofaciodigital syndrome type 1 [Disease (Nov.)]
MeSH term(s) associated for indexing
- orofaciodigital syndromes [MeSH Descriptor]
Record concept(s)
- Orofaciodigital syndrome type1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Oral-facial-digital syndrome (disorder) [SNOMED CT concept]