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syndroom van symfalangisme met meervoudige anomalieën van handen en voeten (aandoening)
syndroom van symfalangisme met meervoudige anomalieën van handen en voeten
syndroom van Learman
Symphalangism with multiple anomalies of hands and feet syndrome
Learman syndrome
Symphalangism with multiple anomalies of hands and feet
Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.
Id732955001
StatusPrimitive
Associated morphologyankylose
Finding sitestructuur van interfalangeaal gewricht
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ74.8
TermOverige gespecificeerde congenitale misvormingen van extremiteit(en)
SNOMED CT to Orphanet simple map3246
SNOMED CT to ICD-10 extended map
TargetQ74.8
RuleTRUE
AdviceALWAYS Q74.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified