malformatiesyndroom met betrokkenheid van meerdere systemen
syndroom van partiële monosomie 1q
|
|
1q44-microdeletiesyndroom (aandoening)
1q44-microdeletiesyndroom
1q44 microdeletion syndrome
Monosomy 1q44
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
Id
719649004
Status
Primitive
Associated morphology
partiële monosomie
Finding site
chromosomenpaar 1
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
Associated morphology
partiële monosomie
Finding site
structuur van lange arm van chromosoom
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map
238769
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