Congenital anomaly of thorax
Degenerative disorder
Dysplasia with defective mineralization
Intellectual disability
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Ossification anomaly with psychomotor developmental delay syndrome (disorder)
Ossification anomaly with psychomotor developmental delay syndrome
This syndrome has characteristics of hypomineralization of the cranial bones, thoracic dystrophy, hypotonia and abnormal and slender long bones due to an alteration in remodelling during ossification. It has been described in two brothers and was present at birth. The surviving boy displayed progressive osteopenia, slow healing of the periostal anomalies, hepatic angiomas, a thoracic deformity, delayed tooth eruption, progressive microcephaly with dilation of the cerebral ventricles and mental and motor delay.
syndroom van ossificatieanomalie met psychomotorische ontwikkelingsachterstand
Id722107005
StatusPrimitive
Associated morphologyImpaired mineralization
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDystrophy
Finding siteThoracic structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ79.8
RuleTRUE
AdviceALWAYS Q79.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified