Autosomal dominant hereditary disorder
Developmental hereditary disorder
Diabetes mellitus associated with genetic syndrome
Hereditary disorder of endocrine system
Insulin resistance
Short stature disorder
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Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome (disorder)
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome
A rare genetic endocrine disease with characteristics of intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.
Id1197592001
StatusPrimitive
Associated withGenetic disease
Finding siteStructure of endocrine system
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsBody height measure
ICD-10 complex map reference set
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified