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Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
MPPH syndrome
MPPH (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome
This syndrome has characteristics of megalencephaly, polymicrogyria and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.
syndroom van megalencefalie, polymicrogyrie, postaxiale polydactylie en hydrocefalie
syndroom van macrencefalie, polymicrogyrie, postaxiale polydactylie en hydrocephalus
MPPH-syndroom
Id722036008
StatusPrimitive
Associated morphologyCongenital smallness
Finding siteStructure of gyrus of brain
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDilatation
Finding siteBrain cerebrospinal fluid pathway
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyEnlargement
Finding siteCerebrum
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ04.5
RuleTRUE
AdviceALWAYS Q04.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ03.9
RuleTRUE
AdviceALWAYS Q03.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified