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Osteopenia, intellectual disability, sparse hair syndrome (disorder)
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.
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
Id732954002
StatusPrimitive
Associated morphologyOsteopenia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteHair structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsBone density scan
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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