Congenital abnormality of oral cavity
Congenital anomaly of digit
Ectodermal dysplasia
Genetic disease
Multiple malformation syndrome with facial-limb defects as major feature
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Oral-facial-digital syndrome (disorder)
Oral-facial-digital syndrome
Orofacial-digital syndrome
Orodigitofacial dysostosis
Id52868006
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteEctoderm structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteStructure of internal part of mouth
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified
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Joubert syndrome with orofaciodigital defect
Mohr syndrome
Oral-facial-digital syndrome with short stature and brachymesophalangia
Oro-facial digital syndrome type 1
Oro-facial digital syndrome type 10
Oro-facial digital syndrome type 11
Oro-facial digital syndrome type 12
Oro-facial digital syndrome type 13
Oro-facial digital syndrome type 14
Oro-facial digital syndrome type 5
Oro-facial digital syndrome type 8
Oro-facial digital syndrome type 9
Orofacial-digital syndrome III
Orofacial-digital syndrome IV