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syndroom van macrocefalie, obesitas, verstandelijke beperking en oogafwijking (aandoening)
syndroom van macrocefalie, obesitas, verstandelijke beperking en oogafwijking
MOMO-syndroom
syndroom van macrocefalie, obesitas, mentale retardatie en oogafwijking
syndroom van macrocefalie, obesitas, verstandelijke handicap en oogafwijking
MOMO syndrome
MOMO (macrocephaly, obesity, mental disability, ocular abnormality) syndrome
Macrocephaly, obesity, mental disability, ocular abnormality syndrome
A very rare genetic overgrowth/obesity syndrome with characteristics of macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.
Id724137002
StatusPrimitive
Associated morphologyvergroting
Finding sitegehele hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.3
RuleTRUE
AdviceALWAYS Q87.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified