1332509007: Fragile X associated primary ovarian insufficiency (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Pelvic organ finding (finding)\Ovary finding\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Pelvic organ finding (finding)\Ovary finding\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Disorder of pelvis\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Ovary finding\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Pelvic organ finding (finding)\Ovary finding\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Female genitalia finding\Ovary finding\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency

\Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency

\Endocrine finding\Decreased hormone secretion\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency

\Disease\Genetic disease\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Fragile X associated primary ovarian insufficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5354686016 Fragile X associated primary ovarian insufficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5354687013 Fragile X associated primary ovarian insufficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5354688015 A rare, genetic premature ovarian failure characterised by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in FMR1 gene. This is defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhoea), irregular ovulation and altered hormone profile (hypooestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5354689011 A rare, genetic premature ovarian failure characterized by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in FMR1 gene. This is defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhea), irregular ovulation and altered hormone profile (hypoestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fragile X associated primary ovarian insufficiency	Is a	Premature ovarian failure	true	Inferred relationship	Some
Fragile X associated primary ovarian insufficiency	Is a	Genetic disease	true	Inferred relationship	Some
Fragile X associated primary ovarian insufficiency	Finding site	Ovarian endocrine structure	true	Inferred relationship	Some	2
Fragile X associated primary ovarian insufficiency	Interprets	Hormone secretion	true	Inferred relationship	Some	1
Fragile X associated primary ovarian insufficiency	Has interpretation	Decreased	true	Inferred relationship	Some	1

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
5354686016	Fragile X associated primary ovarian insufficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5354687013	Fragile X associated primary ovarian insufficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5354688015	A rare, genetic premature ovarian failure characterised by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in FMR1 gene. This is defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhoea), irregular ovulation and altered hormone profile (hypooestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5354689011	A rare, genetic premature ovarian failure characterized by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in FMR1 gene. This is defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhea), irregular ovulation and altered hormone profile (hypoestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core