Autosomal recessive hereditary disorder
Cerebral calcification
Congenital anomaly of cerebrum
Congenital anomaly of retina
Congenital degeneration of nervous system
Degeneration of retina
Developmental hereditary disorder
Hereditary degenerative disease of central nervous system
Hereditary disorder of the visual system
Intellectual disability
Multiple system malformation syndrome
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Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome
Bonnemann Meinecke Reich syndrome
A syndrome of multiple congenital anomalies with characteristics of encephalopathy that predominantly occurs in the first year of life and presents as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.
syndroom van encefalopathie, intracerebrale calcificatie en retinadegeneratie
syndroom van Bonnemann-Meinecke-Reich
Id733049004
StatusPrimitive
Associated morphologyPathologic calcification
Finding siteCerebrum
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDegenerative abnormality
Finding siteRetinal structure
OccurrenceCongenital
Pathological processPathological developmental process
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
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified