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Xp22.3-microdeletiesyndroom (aandoening)
Xp22.3-microdeletiesyndroom
Chromosome Xp22.3 microdeletion syndrome
Xp22.3 microdeletion syndrome
Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.
Id726733007
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1643
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified