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725295005: Familial male-limited precocious puberty (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3482379014 Familial male-limited precocious puberty (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3482380012 Familial male-limited precocious puberty en Synonym Active Case insensitive SNOMED CT core
3482381011 Familial gonadotropin-independent male-limited sexual precocity en Synonym Active Case insensitive SNOMED CT core
3482382016 Familial testotoxicosis en Synonym Active Case insensitive SNOMED CT core
3482383014 Male-limited precocious puberty en Synonym Active Case insensitive SNOMED CT core
3482384015 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. en Definition Active Case sensitive SNOMED CT core
3482385019 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 luteinising 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 luteinising 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. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial male-limited precocious puberty Pathological process Pathological developmental process true Inferred relationship Some 2
Familial male-limited precocious puberty Interprets Endocrine observable false Inferred relationship Some 1
Familial male-limited precocious puberty Is a Congenital anomaly of endocrine testis true Inferred relationship Some
Familial male-limited precocious puberty Finding site Testicular endocrine structure true Inferred relationship Some 2
Familial male-limited precocious puberty Associated morphology Maturation acceleration true Inferred relationship Some 2
Familial male-limited precocious puberty Occurrence Congenital true Inferred relationship Some 2
Familial male-limited precocious puberty Is a Developmental hereditary disorder true Inferred relationship Some
Familial male-limited precocious puberty Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Familial male-limited precocious puberty Is a Hereditary disorder of endocrine system true Inferred relationship Some
Familial male-limited precocious puberty Is a Reproductive system hereditary disorder true Inferred relationship Some
Familial male-limited precocious puberty Is a Precocious puberty true Inferred relationship Some
Familial male-limited precocious puberty Is a Testicular dysfunction false Inferred relationship Some
Familial male-limited precocious puberty Is a Increased hormone production true Inferred relationship Some
Familial male-limited precocious puberty Interprets Evaluation procedure false Inferred relationship Some 1
Familial male-limited precocious puberty Has interpretation Increased true Inferred relationship Some 3
Familial male-limited precocious puberty Interprets Hormone production true Inferred relationship Some 3
Familial male-limited precocious puberty Occurrence Congenital false Inferred relationship Some 4
Familial male-limited precocious puberty Finding site Testicular endocrine structure false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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