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syndroom van cryptomicrotie en brachydactylie (aandoening)
syndroom van cryptomicrotie en brachydactylie
Cryptomicrotia brachydactyly syndrome
Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
Tonoki Ohura Niikawa syndrome
This syndrome describes a combination of malformations that include bilateral cryptomicrotia (recessed, hidden and small or absent ears), brachytelomesophalangy with short middle and distal phalanges of digits two through five, hypoplastic toenails and excess fingertip arch patterns. The syndrome has been reported in one family (mother and son). There have been no further descriptions in the literature since 1988.
Id725096002
StatusPrimitive
Associated morphologyabnormaal korte groei
Finding sitegehele middenfalanx
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified