Central hypothyroidism	Hereditary disorder of endocrine system	Hypertrophy of testis	Reproductive system hereditary disorder	X-linked recessive hereditary disease
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X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
	X-linked central congenital hypothyroidism with late-onset testicular enlargement
	X-linked central congenital hypothyroidism with late-onset macroorchidism IGSF1 (immunoglobulin superfamily member 1) deficiency syndrome
	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.
	X-gebonden centrale congenitale hypothyreoïdie met laat optredende macro-orchidie
	IGSF1-deficiëntiesyndroom X-gebonden centraal aangeboren hypothyroïdisme met laat optredend macro-orchidisme

Id	771510006
Status	Primitive

Associated morphology	Hypertrophy
Finding site	Testis structure
Occurrence	Adolescence

Finding site

Thyroid structure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E03.1
Rule	TRUE
Advice	ALWAYS E03.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified