722459008: Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \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 male reproductive system\Disorder of male genital organ\Disease of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\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\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \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 male reproductive system\Disorder of male genital organ\Disease of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Male genitalia finding\Disorder of male reproductive system\Disorder of male genital organ\Disease of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Male genitalia finding\Testicular finding (finding)\Disease of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Male genitalia finding\Disorder of male reproductive system\Disorder of male genital organ\Disease of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Male genitalia finding\Testicular finding (finding)\Disease of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism (disorder)\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\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\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\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\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\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)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\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\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\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\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Functional finding\Decline in functional status (finding)\Decreased hormone production (finding)\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Endocrine finding\Decreased hormone production (finding)\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Hypogonadism (disorder)\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \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\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \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\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \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)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \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\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \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\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \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\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \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\Hypogonadism (disorder)\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3332220011	Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332226017	Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332227014	Sohval Soffer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402956015	This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402957012	This syndrome is characterised by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332220011	Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3332220011	Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332226017	Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3332226017	Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332227014	Sohval Soffer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332228016	This syndrome has characteristics of hypergonadotropic hypogonadism, intellectual deficit, and congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. It has been described in two brothers. Testicular biopsy revealed germinal aplasia and complete seminiferous tubular fibrosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402956015	This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402957012	This syndrome is characterised by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3429651001000115	Männlicher Hypogonadismus-Intelligenzminderung-Skelettanomalien-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
883521000172117	syndrome d'hypogonadisme hypergonadotrope masculin-déficience intellectuelle-anomalies squelettiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
934841000172113	syndrome de Sohval-Soffer	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
883521000172117	syndrome d'hypogonadisme hypergonadotrope masculin-déficience intellectuelle-anomalies squelettiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
934841000172113	syndrome de Sohval-Soffer	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3429651001000115	Männlicher Hypogonadismus-Intelligenzminderung-Skelettanomalien-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

Back to Start