Oral-facial-digital syndrome type 1

Preferred Label : Oral-facial-digital syndrome type 1;

ICD-11 definition : Orofaciodigital syndrome type 1 (OFD1) is characterized by malformations of the face (frontal bossing, facial asymmetry, hypertelorism, broadened nasal bridge, facial milia), oral cavity (pseudoclefting of the upper lip, cleft palate and tongue, high arched palate, tethering of the tongue by frenulae, abnormal dentition), and digits (syndactyly, brachydactyly, clinodactyly, polydactyly).;

ICD-11 synonym : Orofaciodigital syndrome type 1; Papillon-Léage-Psaume syndrome; OFD1 - [orolfacialdigital syndrome 1]; orolfacialdigital syndrome 1;

ICD-11 acronym : OFD1;

Details

Origin ID

192000485;

Automatic exact mappings (from CISMeF team)
- OFD1 centriole and centriolar satellite protein [ORDO Gene]
- Ofd1 centriole and centriolar satellite protein [OMIM gene]
Currated CISMeF NLP mapping
- Oro-facial digital syndrome type 1 (disorder) [SNOMED CT concept]
- Orofaciodigital Syndrome Type 1 [NCIt concept]
- Orofaciodigital syndrome I [OMIM Phenotype]
- Orofaciodigital syndrome type 1 [ORDO Disease]
- Orofaciodigital syndrome type1 [MeSH concept]
- oral-facial-digital syndrome [SNOMED Notion]
- orofaciodigital syndrome I [DO Concept]
- orofaciodigital syndrome type 1 [Disease (Nov.)]
- orofaciodigital syndrome type1 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- OFD1 Gene [NCIt concept]
Validated automatic mappings to NTBT
- Oral-facial-digital syndrome (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome [ORDO Disease]
- orofaciodigital syndrome [DO Concept]
- orofaciodigital syndromes [MeSH Descriptor]

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