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familiaire bijnierhypoplasie met afwezigheid van luteïniserend hormoon (aandoening)
familiaire bijnierhypoplasie met afwezigheid van luteïniserend hormoon
familiaire bijnierhypoplasie met afwezig LH
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Familial adrenal hypoplasia miniature type
A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.
Id782917007
StatusPrimitive
Has interpretationafwezig
Interpretsbepalen van luteïniserend hormoon
Associated morphologyhypoplasie
Finding sitestructuur van bijnierschors
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetE27.1
RuleTRUE
AdviceALWAYS E27.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified