syndroom van partiële monosomie 11p

|

chromosoom 11p13-deletiesyndroom (aandoening)
	chromosoom 11p13-deletiesyndroom
	syndroom van Wilms-tumor, aniridie, genito-urinaire malformatie en mentale retardatie WAGR-syndroom
	WAGR syndrome
	Chromosome 11p13 deletion syndrome WAGR (Wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome WAGR (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome Wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome
	Syndrome associated with an increased risk of developing Wilms tumor, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation.

Id	715215007
Status	Primitive

Associated morphology	partiële monosomie
Finding site	chromosomenpaar 11
Occurrence	congenitaal

Associated morphology	deletie van korte arm van chromosoom
Finding site	chromosomenpaar 11
Occurrence	congenitaal

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to Orphanet simple map

893

SNOMED CT to ICD-10 extended map

Target	Q93.5
Rule	TRUE
Advice	ALWAYS Q93.5
Correlation	SNOMED CT source code to target map code correlation not specified