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syndroom van afalangie, hemivertebra en urogenitale en/of intestinale dysgenesie (aandoening)
syndroom van afalangie, hemivertebra en urogenitale en/of intestinale dysgenesie
syndroom van Johnson-Munson
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
Johnson Munson syndrome
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date with the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
Id733118006
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van falanx
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyaplasia
Finding sitebotstructuur van wervelkolom
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