orofaciodigital syndrome 6

Preferred Label : orofaciodigital syndrome 6;

MeSH note : Polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation;

CISMeF synonym : polydactyly, cleft Lip/Palate or lingual lump, and psychomotor retardation;

MeSH synonym : oral-facial-digital syndrome, type 6; varadi papp syndrome; Oral-Facial-Digital syndrome, type VI; OFD6; orofaciodigital syndrome VI; varadi syndrome; Varadi-Papp syndrome; OFDS VI; Polydactyly, Cleft Lip-Palate or Lingual Lump, and Psychomotor Retardation;

Détails

Origin ID

C536531;

UMLS CUI

C2745997;

CISMeF manual mappings
- Joubert syndrome with orofaciodigital defect (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome type 6 [ORDO Disease]
Currated CISMeF NLP mapping
- Joubert syndrome with orofaciodigital defect [DO Concept]
- Oral-facial-digital syndrome type 6 [ICD-11 More detail]
- Orofaciodigital Syndrome Type 6 [NCIt concept]
- Orofaciodigital syndrome VI [OMIM Phenotype]
DO Cross reference
- Joubert syndrome with orofaciodigital defect [DO Concept]
MeSH term(s) associated for indexing
- orofaciodigital syndromes [MeSH Descriptor]
Record concept(s)
- Orofaciodigital syndrome 6 [MeSH 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 Type 6 [NCIt concept]
- Orofaciodigital syndrome VI [OMIM Phenotype]
- Orofaciodigital syndrome type 6 [ORDO Disease]

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