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syndroom van nasopalpebraal lipoom en coloboom (aandoening)
syndroom van nasopalpebraal lipoom en coloboom
Nasopalpebral lipoma coloboma syndrome
Syndrome with characteristics of nasopalpebral lipomas, bilateral eyelid coloboma, and telecanthus. It has been described in less than 30 patients. Other manifestations may include maxillary hypoplasia, hypertelorism, and dysmorphic features. It is transmitted as an autosomal dominant trait with complete penetrance.
Id723411003
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van palpebra
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologylipomateuze morfologie
Finding sitestructuur van aangezicht
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ10.3
TermOverige congenitale misvormingen van ooglid
TargetD17.0
TermBenigne lipomateus neoplasma van huid en subcutaan weefsel van hoofd en hals
SNOMED CT to Orphanet simple map2399
SNOMED CT to ICD-10 extended map
TargetQ10.3
RuleTRUE
AdviceALWAYS Q10.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD17.0
RuleTRUE
AdviceALWAYS D17.0 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified