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pontiene tegmentale kap-dysplasie (aandoening)
pontiene tegmentale kap-dysplasie
pontine tegmental cap dysplasia
Pontine tegmental cap dysplasia
PTCD - pontine tegmental cap dysplasia
A rare central nervous system malformation with characteristics of a specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been reported.
Id782884005
StatusPrimitive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ04.8
RuleTRUE
AdviceALWAYS Q04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified