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\Intellectual disability\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.

\Finding of trunk structure (finding)\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 (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\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 male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\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 testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\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 testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\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\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\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 (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\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 (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Male genitalia finding\Testicular finding\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Male genitalia finding\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Male genitalia finding\Testicular finding\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\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)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder 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)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\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 (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\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 testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\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 testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Finding of trunk structure (finding)\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\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.

\Functional finding\Decline in functional status (finding)\Decreased hormone production\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.

\Endocrine finding\Decreased hormone production\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Disorder 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)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\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 (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\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 testis\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\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 testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\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\Male hypogonadism\Testicular hypofunction (disorder)\Primary testicular failure (disorder)\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Developmental disorder\Developmental hereditary disorder\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.

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

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 Inactive 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 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Is a	mental retardering	false	Inferred relationship	Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Is a	X-linked hereditary disease (disorder)	true	Inferred relationship	Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Is a	Primary testicular failure (disorder)	true	Inferred relationship	Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Finding site	Testicular endocrine structure	false	Inferred relationship	Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Has definitional manifestation	Decreased hormone production	false	Inferred relationship	Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Associated morphology	dysgenese	false	Inferred relationship	Some	3
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Occurrence	Congenital	true	Inferred relationship	Some	3
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Finding site	Bone structure	true	Inferred relationship	Some	3
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Occurrence	Congenital	true	Inferred relationship	Some	1
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Finding site	Testicular endocrine structure	true	Inferred relationship	Some	1
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Has interpretation	Decreased	true	Inferred relationship	Some	2
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Interprets	Hormone production	true	Inferred relationship	Some	2
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Is a	Intellectual disability	true	Inferred relationship	Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Interprets	Intellectual ability	true	Inferred relationship	Some	4
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Has interpretation	Impaired	true	Inferred relationship	Some	4
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	Has interpretation	Impaired	true	Inferred relationship	Some	5

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
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	Inactive	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	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