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syndroom van osteopenie, verstandelijke beperking en dun haar (aandoening)
syndroom van osteopenie, verstandelijke beperking en dun haar
syndroom van osteopenie, verstandelijke handicap en dun haar
syndroom van osteopenie, mentale retardatie en dun haar
syndroom van Kaler-Garrity-Stern
Osteopenia, intellectual disability, sparse hair syndrome
Kaler Garrity Stern syndrome
A rare syndrome described in two sisters of Mennonite descent, with characteristics of sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.
Id732954002
StatusPrimitive
Associated morphologyosteopenie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
Interpretsbotdensitometrie
referentieset met complexe 'mapping' naar ICD-10
TargetM85.89
RuleTRUE
AdviceALWAYS M85.89 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ84.2
RuleTRUE
AdviceALWAYS Q84.2
CorrelationSNOMED CT source code to target map code correlation not specified