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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\Disorder of male genital organ\Disorder of testis\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Disorder of testis\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\Disorder of male genital organ\Disorder of testis\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Male genitalia finding\Disorder of male reproductive system\Disorder of male genital organ\Disorder of testis\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Male genitalia finding\Testicular finding\Disorder of testis\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Male genitalia finding\Disorder of male reproductive system\Disorder of male genital organ\Disorder of testis\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Male genitalia finding\Testicular finding\Disorder of testis\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Disorder of testis\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\Disorder of male genital organ\Disorder of testis\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Disorder of testis\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

\Functional finding\Decline in functional status\Decreased hormone production\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

\Endocrine finding\Decreased hormone production\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Disorder of testis\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\Disorder of male genital organ\Disorder of testis\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Disorder of testis\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Testicular dysfunction\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction\Primary testicular failure\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3332226017 Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome en Synonym Active Case insensitive SNOMED CT core

3332227014 Sohval Soffer syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Is a	Primary testicular failure	true	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Finding site	Testicular endocrine structure	false	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Has definitional manifestation	Decreased hormone production	false	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Finding site	Bone structure	true	Inferred relationship	Some	3
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Finding site	Testicular endocrine structure	true	Inferred relationship	Some	1
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	2
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Interprets	Hormone production	true	Inferred relationship	Some	2
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3332220011	Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3332226017	Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3332227014	Sohval Soffer syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core