Congenital disease
Congenital neurological disorder
Degenerative disorder
Hereditary ataxia
X-linked recessive hereditary disease
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X-linked neurodegenerative syndrome Bertini type (disorder)
X-linked neurodegenerative syndrome Bertini type
This syndrome is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.
X-gebonden neurodegeneratief syndroom Bertini-type
Id718849008
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteStructure of nervous system
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified