aplasia cutis congenita	autosomaal recessieve hereditaire aandoening	congenitale afwijking van lymfatisch systeem van romp	congenitale afwijking van onderste gedeelte van romp	congenitale lymfangiëctasie	hereditaire aandoening van integumentum	hereditaire aandoening van lymfatisch systeem	hereditaire ontwikkelingsstoornis	intestinale lymfangiëctasie
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syndroom van aplasia cutis congenita met intestinale lymfangiëctasie (aandoening)
	syndroom van aplasia cutis congenita met intestinale lymfangiëctasie
	syndroom van Bronspiegel-Zelnick Bronspiegel-Zelnick-syndroom
	Aplasia cutis congenita with intestinal lymphangiectasia syndrome
	Bronspiegel Zelnick syndrome
	An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.

Id	720500008
Status	Primitive

Associated morphology	aplasia
Finding site	gedeelte van huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	lymfangiëctasie
Finding site	structuur van lymfevat van darm
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q84.8
Term	Overige gespecificeerde congenitale misvormingen van huidadnexen

Target	Q82.0
Term	Hereditair lymfoedeem

SNOMED CT to Orphanet simple map

1116

SNOMED CT to ICD-10 extended map

Target	Q84.8
Rule	TRUE
Advice	ALWAYS Q84.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q82.0
Rule	TRUE
Advice	ALWAYS Q82.0
Correlation	SNOMED CT source code to target map code correlation not specified