| familiaire vroegtijdige puberteit beperkt tot mannen (aandoening) | | familiaire vroegtijdige puberteit beperkt tot mannen | | familiaire gonadotrofine-onafhankelijke pubertas praecox beperkt tot mannen
familiale testotoxicose
familiaire Leydig-celhyperplasie
FMPP
| | Familial male-limited precocious puberty | | Male-limited precocious puberty
Familial testotoxicosis
Familial gonadotropin-independent male-limited sexual precocity
| | A very rare gonadotropin-independent familial form of male-limited precocious puberty generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. Caused by an activating mutation of the Lutropin-Choriogonadotropic Hormone Receptor gene (LHCGR, 2p21) which leads to increased levels of sex steroids in the context of low luteinizing hormone. This receptor's chronic activation leads to precocious testosterone production by Leydig cells. No effect is observed in female carriers due to the dual luteinizing hormone (LH)/ follicle stimulating hormone (FSH) signal necessary to promote ovarian stimulation. Transmission is autosomal dominant. Mothers may act as silent carriers, with each son having a 50% chance of displaying this disorder. |
| | Id | 725295005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E30.1 | | Term | Pubertas praecox |
| Target | Z83.4 | | Term | Familie-anamnese met overige endocriene ziekten en voedings- en stofwisselingsstoornissen |
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| SNOMED CT to Orphanet simple map | 3000 |
| SNOMED CT to ICD-10 extended map | | Target | E30.1 | | Rule | TRUE | | Advice | ALWAYS E30.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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