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X-gebonden centrale congenitale hypothyreoïdie met laat optredende macro-orchidie (aandoening)
X-gebonden centrale congenitale hypothyreoïdie met laat optredende macro-orchidie
IGSF1-deficiëntiesyndroom
X-gebonden centraal aangeboren hypothyroïdisme met laat optredend macro-orchidisme
X-linked central congenital hypothyroidism with late-onset testicular enlargement
IGSF1 (immunoglobulin superfamily member 1) deficiency syndrome
X-linked central congenital hypothyroidism with late-onset macroorchidism
A rare genetic endocrine disease with characteristics of central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency. Caused by mutation in the IGSF1 gene on chromosome Xq26.
Id771510006
StatusPrimitive
Associated morphologyhypertrofie
Finding sitestructuur van testis
Occurrenceadolescentie
referentieset met complexe 'mapping' naar ICD-10
TargetE03.1
RuleTRUE
AdviceALWAYS E03.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified