alfathalassemie
congenitale afwijking
congenitale anemie
deletie van gedeelte van korte arm van chromosoom 16
hereditaire ontwikkelingsstoornis
verstandelijke beperking
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syndroom van alfathalassemie en verstandelijke beperking gelinkt aan chromosoom 16 (aandoening)
syndroom van alfathalassemie en verstandelijke beperking gelinkt aan chromosoom 16
ATR-syndroom deletie-type
ATR-16-syndroom
syndroom van alfathalassemie en mentale retardatie gelinkt aan chromosoom 16
syndroom van alfathalassemie en verstandelijke handicap gekoppeld aan chromosoom 16
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
Alpha thalassemia intellectual disability syndrome, deletion type
ATR-16 syndrome
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
Id734349003
StatusPrimitive
Finding siteerytrocyt
Occurrencecongenitaal
Has interpretationonder referentiebereik
InterpretsMeasurement of total hemoglobin concentration
Has interpretationonder referentiebereik
Interpretstelling van erytrocyten
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 16
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypartiële monosomie
Finding sitestructuur van korte arm van chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map98791
SNOMED CT to ICD-10 extended map
TargetD56.0
RuleTRUE
AdviceALWAYS D56.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified