Auditory system hereditary disorder
Autosomal recessive hereditary disorder
Congenital abnormality of external ear
Congenital anomaly of bone and joint
Congenital anomaly of face bones
Congenital anomaly of jaw
Congenital genu valgum
Craniofacial microsomia
Developmental hereditary disorder
Failure of tooth eruption
Finding of dentition
Hereditary disorder of musculoskeletal system
Hereditary disorder of tooth
Multiple malformation syndrome with facial-limb defects as major feature
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Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome
Stoelinga de Koomen Davis syndrome
An extremely rare syndrome with characteristics of multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Consanguinity in the family suggested autosomal recessive inheritance.
syndroom van niet doorkomen van tanden, hypoplasie van maxilla en genu valgum
syndroom van niet doorkomen van tanden, hypoplasie van maxillaire en genu valgum
syndroom van Stoelinga-De Koomen-Davis
Id723442008
StatusPrimitive
Associated morphologyHypoplasia
Finding siteBone structure of jaw
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyValgus deformity
Finding siteKnee joint structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteExternal ear structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteDentition
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetK00.6
RuleTRUE
AdviceALWAYS K00.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetK07.0
RuleTRUE
AdviceALWAYS K07.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ74.1
RuleTRUE
AdviceALWAYS Q74.1
CorrelationSNOMED CT source code to target map code correlation not specified