Autosomal recessive hereditary disorder
Congenital anomaly of the kidney
Congenital cataract
Congenital neurological disorder
Developmental hereditary disorder
Hereditary disorder of nervous system
Hereditary disorder of the visual system
Hereditary nephropathy
Injury of lens
Multiple system malformation syndrome
Renal cortical necrosis
Renal tubular disorder
Short stature disorder
Traumatic or nontraumatic brain injury
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Congenital cataract, nephropathy, encephalopathy syndrome (disorder)
Crome syndrome
Congenital cataract, nephropathy, encephalopathy syndrome
A lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits and postmortem confirmation of nephropathy (renal tubular necrosis). The combination has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.
syndroom van cataract, nefropathie en encefalopathie
syndroom van Crome
Id722381004
StatusPrimitive
Associated morphologyOpacity
Finding siteLens clear
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteBrain structure
Pathological processPathological developmental process
Associated morphologyNecrosis
Finding siteRenal tubule structure
OccurrenceCongenital
Pathological processPathological developmental process
InterpretsHeight / growth measure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified