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ernstige neurobiologische ontwikkelingsstoornis met voedingsproblemen, stereotiepe handbewegingen en bilateraal cataract (aandoening)
ernstige neurobiologische ontwikkelingsstoornis met voedingsproblemen, stereotiepe handbewegingen en bilateraal cataract
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract
A rare pervasive developmental disorder with characteristics of microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.
Id1179282009
StatusPrimitive
Has interpretationonder referentiebereik
Interpretshoofdomtrek
Has interpretationmet moeite in staat
Interpretsvermogen tot voeden
Associated morphologytroebeling
Finding sitestructuur van lens van rechter oog
Associated morphologytroebeling
Finding sitestructuur van lens van linker oog
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map500545
SNOMED CT to ICD-10 extended map
TargetF84.8
RuleTRUE
AdviceALWAYS F84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified