autosomaal dominante hereditaire aandoening
congenitale aplastische anemie
hereditaire aandoening van leukocyt
hereditaire aandoening van trombocyt
hereditaire ontwikkelingsstoornis
polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk
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WT-bloedsyndroom van extremiteit (aandoening)
WT-bloedsyndroom van extremiteit
WT-bloedsyndroom van ledemaat
WT limb blood syndrome
Syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.
Id719019000
StatusPrimitive
Associated morphologyaplasia
Finding sitestructuur van beenmerg
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
Interpretstelling van leukocyten
Has interpretationonder referentiebereik
Interpretstelling van erytrocyten
Has interpretationonder referentiebereik
InterpretsPlatelet count
Has interpretationonder referentiebereik
InterpretsMeasurement of total hemoglobin concentration
Due toverlaagde aanmaak van erytrocyten
Pathological processafwijkend immuunproces
Has interpretationafwijkend
Interpretshemostase
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD61.0
TermConstitutionele aplastische anemie
SNOMED CT to Orphanet simple map3466
SNOMED CT to ICD-10 extended map
TargetD61.0
RuleTRUE
AdviceALWAYS D61.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified