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syndroom van wenkbrauwduplicatie en syndactylie (aandoening)
syndroom van wenkbrauwduplicatie en syndactylie
Duplication of eyebrow and syndactyly syndrome
Eyebrow duplication syndactyly syndrome
Syndrome with characteristics of partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.
Id733070005
StatusPrimitive
Associated morphologyverdubbeling
Finding sitestructuur van supercilium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ18.8
TermOverige gespecificeerde congenitale misvormingen van aangezicht en hals
TargetQ70.1
TermVingers met vliezige verbinding
TargetQ70.3
TermTenen met vliezige verbinding
SNOMED CT to Orphanet simple map3172
SNOMED CT to ICD-10 extended map
TargetQ18.8
RuleTRUE
AdviceALWAYS Q18.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ70.1
RuleTRUE
AdviceALWAYS Q70.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ70.3
RuleTRUE
AdviceALWAYS Q70.3
CorrelationSNOMED CT source code to target map code correlation not specified