aandoening gerelateerd aan 'methyl-cytosine phosphate guanine binding protein 2'	congenitale anomalie van X-chromosoom	X-gebonden hereditaire recessieve aandoening
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'methyl-cytosine phosphate guanine binding protein 2'-duplicatiesyndroom (aandoening)
	'methyl-cytosine phosphate guanine binding protein 2'-duplicatiesyndroom
	X-gebonden mentale retardatie Lubs type MECP2-duplicatiesyndroom Lubs-Arena-syndroom syndroom van Lubs-Arena
	MECP2 duplication syndrome
	Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome Lubs X-linked intellectual disability syndrome Lubs X-linked mental retardation syndrome Proximal Xq28 duplication syndrome Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
	A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.

Id	702816000
Status	Primitive

Associated morphology	partiële trisomie
Finding site	structuur van lange arm van chromosoom
Occurrence	congenitaal

Associated morphology	partiële trisomie
Finding site	structuur van X-chromosoom
Occurrence	congenitaal

SNOMED CT to Orphanet simple map

1762

SNOMED CT to ICD-10 extended map

Target	Q99.8
Rule	TRUE
Advice	ALWAYS Q99.8
Correlation	SNOMED CT source code to target map code correlation not specified