OMOP Concept 4199770
Oral-facial-digital syndrome
StandardConditionSNOMED52868006Disorder
Maps from
5
Descendants
14
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
5 source codes normalize to Oral-facial-digital syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 131742 | Oral-facial-digital syndrome | Non-standard |
| MeSH | D009958 | Orofaciodigital Syndromes | Non-standard |
| Nebraska Lexicon | 52868006 | OFD I - Orofacial-digital syndrome I | Non-standard |
| Read | PKy5000 | Oral - facial - digital syndrome | Non-standard |
| Read | PKy5011 | Papillon-Leage-Psaume syndrome | Non-standard |
Synonyms
Alternative names recorded for Oral-facial-digital syndrome across source vocabularies.
- disostosis orodigitofacial
- Oral-facial-digital syndrome (disorder)
- Orodigitofacial dysostosis
- Orofacial-digital syndrome
- síndrome bucal - facial - digital
- síndrome de Papillon-Léage y Psaume
- síndrome orofaciodigital
- síndrome orofaciodigital (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(53)Roll up to these when you need a wider cohort.
- 1Congenital abnormality of oral cavity
- 1Congenital anomaly of digit
- 1Ectodermal dysplasia
- 1Genetic disease
- 1Multiple malformation syndrome with facial-limb defects as major feature
- 2Congenital anomaly of limb
- 2Congenital anomaly of mouth
- 2Congenital ectodermal defect
- 2Disease
- 2Disorder of digit
- 2Genodermatosis
- 2Multiple malformation syndrome with facial defects as major feature
- 2Multiple malformation syndrome with limb defect as major feature
- 2Oral cavity finding
- 3Clinical finding
- 3Congenital anomaly of face
- 3Congenital anomaly of head
- 3Congenital anomaly of skin
- 3Congenital malformation
- 3Congenital malformation of upper alimentary tract
- 3Disease of mouth
- 3Disorder of embryonic structure
- 3Disorder of limb
- 3Finding of mouth region
- 3Multiple system malformation syndrome
Narrower concepts
(14)Included automatically when you query with descendants.
- 1Joubert syndrome with orofaciodigital defect
- 1Mohr syndrome
- 1Oral-facial-digital syndrome with short stature and brachymesophalangia
- 1Orofacial-digital syndrome III
- 1Orofacial-digital syndrome IV
- 1Oro-facial digital syndrome type 1
- 1Oro-facial digital syndrome type 10
- 1Oro-facial digital syndrome type 11
- 1Oro-facial digital syndrome type 12
- 1Oro-facial digital syndrome type 13
- 1Oro-facial digital syndrome type 14
- 1Oro-facial digital syndrome type 5
- 1Oro-facial digital syndrome type 8
- 1Oro-facial digital syndrome type 9
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