deletie van gedeelte van lange arm van chromosoom 2
syndroom geassocieerd met speciaal 'AT-rich sequence-binding protein 2'
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2q.33.1-microdeletiesyndroom (aandoening)
2q.33.1-microdeletiesyndroom
2q33.1 microdeletion syndrome
Monosomy 2q33.1
SATB2-associated syndrome due to chromosomal rearrangement
Id
763062006
Status
Primitive
Associated morphology
partiƫle monosomie
Finding site
structuur van lange arm van chromosoom
Occurrence
congenitaal
Associated morphology
partiƫle monosomie
Finding site
chromosomenpaar 2
Occurrence
congenitaal
Has interpretation
gestoord
Interprets
intellectueel vermogen
Has interpretation
gestoord
Interprets
Adaptation behavior
Associated morphology
morfologische afwijking
Finding site
structuur van gebitselement
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
Associated morphology
hypoplasie
Finding site
botstructuur van mandibula
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map
251028
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