725295005: Familial male-limited precocious puberty (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Functional finding\Increased hormone production\Familial male-limited precocious puberty

\Endocrine finding\Increased hormone production\Familial male-limited precocious puberty

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\Familial male-limited precocious puberty
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Familial male-limited precocious puberty
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial male-limited precocious puberty
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial male-limited precocious puberty
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Precocious puberty\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Disorder of endocrine testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Disease of testis\Disorder of endocrine testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Disease of testis\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Precocious puberty\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Disorder of male genital organ\Disease of testis\Disorder of endocrine testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Disorder of male genital organ\Disease of testis\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Disorder of male genital organ\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Disease of testis\Disorder of endocrine testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Disease of testis\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Precocious puberty\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Familial male-limited precocious puberty
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of male genital system (disorder)\Congenital anomaly of testis\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\Congenital anomaly of endocrine testis (disorder)\Familial male-limited precocious puberty
\Disease\Developmental disorder (disorder)\Disorder of puberty\Precocious puberty\Familial male-limited precocious puberty

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3482380012 Familial male-limited precocious puberty en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3482381011 Familial gonadotropin-independent male-limited sexual precocity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3482382016 Familial testotoxicosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3482383014 Male-limited precocious puberty en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5403447013 Familial male limited precocious puberty (FMPP) is a 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3482379014 Familial male-limited precocious puberty (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3482380012 Familial male-limited precocious puberty en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3482381011 Familial gonadotropin-independent male-limited sexual precocity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3482382016 Familial testotoxicosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3482383014 Male-limited precocious puberty en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5403447013 Familial male limited precocious puberty (FMPP) is a 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3393991001000119 Vorzeitige männliche Pubertät, familiäre Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

888111000172110 puberté précoce familiale limitée aux garçons fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1003721000172111 FMPP - familial male-limited precocious puberty fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

888111000172110 puberté précoce familiale limitée aux garçons fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1003721000172111 FMPP - familial male-limited precocious puberty fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3393991001000119 Vorzeitige männliche Pubertät, familiäre Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial male-limited precocious puberty	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial male-limited precocious puberty	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial male-limited precocious puberty	Is a	Reproductive system hereditary disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial male-limited precocious puberty	Is a	Precocious puberty	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial male-limited precocious puberty	Is a	Disorder of endocrine testis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial male-limited precocious puberty	Is a	Increased hormone production	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial male-limited precocious puberty	Interprets	Evaluation procedure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial male-limited precocious puberty	Has interpretation	Increased	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Familial male-limited precocious puberty	Interprets	Hormone production	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Familial male-limited precocious puberty	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Familial male-limited precocious puberty	Finding site	Testicular endocrine structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Familial male-limited precocious puberty	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial male-limited precocious puberty	Interprets	Endocrine observable	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial male-limited precocious puberty	Is a	Congenital anomaly of endocrine testis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial male-limited precocious puberty	Finding site	Testicular endocrine structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial male-limited precocious puberty	Associated morphology	Maturation acceleration (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial male-limited precocious puberty	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial male-limited precocious puberty	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3482379014	Familial male-limited precocious puberty (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3482380012	Familial male-limited precocious puberty	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3482381011	Familial gonadotropin-independent male-limited sexual precocity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3482382016	Familial testotoxicosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3482383014	Male-limited precocious puberty	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403447013	Familial male limited precocious puberty (FMPP) is a 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3482379014	Familial male-limited precocious puberty (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3482380012	Familial male-limited precocious puberty	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3482381011	Familial gonadotropin-independent male-limited sexual precocity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3482382016	Familial testotoxicosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3482383014	Male-limited precocious puberty	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403447013	Familial male limited precocious puberty (FMPP) is a 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3393991001000119	Vorzeitige männliche Pubertät, familiäre Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
888111000172110	puberté précoce familiale limitée aux garçons	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1003721000172111	FMPP - familial male-limited precocious puberty	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
888111000172110	puberté précoce familiale limitée aux garçons	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1003721000172111	FMPP - familial male-limited precocious puberty	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393991001000119	Vorzeitige männliche Pubertät, familiäre Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module