autosomaal recessieve hereditaire aandoening
genetische niet-syndromale obesitas
morbide obesitas
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obesitas door deficiëntie van 'centrosomal protein 19' (aandoening)
obesitas door CEP19-deficiëntie
obesitas door deficiëntie van 'centrosomal protein 19'
Obesity due to CEP19 deficiency
Obesity due to centrosomal protein 19 deficiency
A rare genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.
Id783549006
StatusPrimitive
Has interpretationboven referentiebereik
Interpretsmeetbare observatie betreffende lichaamsgewicht
Occurrencekinderleeftijd
SNOMED CT to Orphanet simple map397615
SNOMED CT to ICD-10 extended map
TargetE66.8
RuleTRUE
AdviceALWAYS E66.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified