centrale hypothyreoïdie	hereditaire aandoening van endocrien systeem	hereditaire aandoening van voortplantingsstelsel	hypertrofie van testis	X-gebonden hereditaire recessieve aandoening
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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
	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.

Id	771510006
Status	Primitive

Associated morphology	hypertrofie
Finding site	structuur van testis
Occurrence	adolescentie

Finding site

structuur van schildklier

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E03.1
Term	Congenitale hypothyroïdie zonder struma

SNOMED CT to Orphanet simple map

329235

SNOMED CT to ICD-10 extended map

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