||||
genetische vorm van gecombineerde hypofysehormoondeficiëntie (aandoening)
genetische vorm van gecombineerde hypofysehormoondeficiëntie
Combined pituitary hormone deficiency genetic form
Familial congenital hypopituitarism
Multiple pituitary hormone deficiency genetic form
Congenital multiple pituitary hormone deficiency including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Rare when compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. Clinical presentation is variable, depending on the type and severity of deficiencies and on the age at diagnosis. If untreated, main symptoms include short stature, cognitive alterations or delayed puberty. Due to mutations of several genes encoding pituitary transcription factors. A diagnosis must be suspected when evident causes of hypopituitarism have been ruled out. Type of transmission varies with the factor and the mutation involved.
Id718182008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE23.0
RuleTRUE
AdviceALWAYS E23.0
CorrelationSNOMED CT source code to target map code correlation not specified