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Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder)
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome
Westerhof Beemer Cormane syndrome
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome
A neurocutaneous syndrome with characteristics of congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.
syndroom van congenitale hypomelanotische en hypermelanotische cutane maculae, groeiachterstand en verstandelijke beperking
syndroom van congenitale hypomelanotische en hypermelanotische cutane maculae, groeiachterstand en mentale retardatie
Id733469003
StatusPrimitive
Associated morphologyNeoplasm
Finding siteStructure of nervous system
OccurrenceCongenital
Associated morphologyNeoplasm
Finding siteSkin structure
OccurrenceCongenital
Associated morphologyPigment alteration
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified