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syndroom van brachydactylie en lange digitus I (aandoening)
syndroom van brachydactylie en lange digitus I
syndroom van brachydactylie en lange duim
Long thumb brachydactyly syndrome
Brachydactyly long thumb type
A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981.
Id733454004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.2
TermCongenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten
SNOMED CT to Orphanet simple map2946
SNOMED CT to ICD-10 extended map
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified