autosomaal dominante hereditaire aandoening	benigne neoplasma van aangezicht	congenitaal coloboom van ooglid	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	lipoom van hoofd	malformatiesyndroom met betrokkenheid van meerdere systemen
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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.

Id	723411003
Status	Primitive

Associated morphology	fusiedefect door stoornis in ontwikkeling
Finding site	structuur van palpebra
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	lipomateuze morfologie
Finding site	structuur van aangezicht
Occurrence	congenitaal

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q10.3
Term	Overige congenitale misvormingen van ooglid

Target	D17.0
Term	Benigne lipomateus neoplasma van huid en subcutaan weefsel van hoofd en hals

SNOMED CT to Orphanet simple map

2399

SNOMED CT to ICD-10 extended map

Target	Q10.3
Rule	TRUE
Advice	ALWAYS Q10.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	D17.0
Rule	TRUE
Advice	ALWAYS D17.0 \| POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
Correlation	SNOMED CT source code to target map code correlation not specified