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syndroom van kleine gestalte, hypofysaire en cerebellaire defecten en kleine sella turcica (aandoening)
syndroom van kleine gestalte, hypofysaire en cerebellaire defecten en kleine sella turcica
Short stature, pituitary and cerebellar defect and small sella turcica syndrome
This syndrome has characteristics of short stature, anterior pituitary hormone deficiency, small sella turcica and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).
Id721072003
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van adenohypofyse
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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