Orofaciodigital Syndrome Type 1

Preferred Label : Orofaciodigital Syndrome Type 1;

NCIt definition : An X-linked inherited syndrome caused by mutations in the OFD1 gene mapped to chromosome Xp22.2. It is characterized by malformations of the face, oral cavity, and fingers.;

NCI Metathesaurus CUI : CL554670;

Details

Origin ID

C75481;

UMLS CUI

C1510460;

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 [ORDO Disease]
- Orofaciodigital syndrome [PASCAL descriptor]
- Orofaciodigital syndrome I [OMIM Phenotype]
- Orofaciodigital syndrome type 1 [ORDO Disease]
- Orofaciodigital syndrome type1 [MeSH concept]
- Papillon-Leage and psaume syndrome [MeSH concept]
- oral-facial-digital syndrome [SNOMED Notion]
- orofaciodigital syndrome [DO Concept]
- orofaciodigital syndrome I [DO Concept]
- orofaciodigital syndrome type 1 [Disease (Nov.)]
- orofaciodigital syndrome type1 [MeSH Supplementary Concept]
- orofaciodigital syndromes [MeSH Descriptor]
DO Cross reference
- orofaciodigital syndrome I [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oral-facial-digital syndrome (disorder) [SNOMED CT concept]
- Oro-facial digital syndrome type 1 (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome I [OMIM Phenotype]
- Papillon-Leage and psaume syndrome [MeSH concept]
- oral-facial-digital syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Oral-facial-digital syndrome (disorder) [SNOMED CT concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- OFD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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