721233005: Hypergonadotropic hypogonadism with cataract syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\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\Hypergonadotropic hypogonadism with cataract 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\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Hypergonadotropic hypogonadism with cataract 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\Hypergonadotropic hypogonadism with cataract 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\Hypergonadotropic hypogonadism with cataract 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\Hypergonadotropic hypogonadism with cataract 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\Hypergonadotropic hypogonadism with cataract syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hypergonadotropic hypogonadism with cataract syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Hypergonadotropic hypogonadism with cataract 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\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Hypergonadotropic hypogonadism with cataract syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3324718015 Hypergonadotropic hypogonadism with cataract syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3324719011 Hypergonadotropic hypogonadism with cataract syndrome en Synonym Active Case insensitive SNOMED CT core

3324720017 Lubinsky syndrome en Synonym Active Case sensitive SNOMED CT core

3324721018 Cataract and testicular failure syndrome en Synonym Active Case insensitive SNOMED CT core

3324722013 Syndrome with the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. An autosomal recessive mode of transmission appears likely. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypergonadotropic hypogonadism with cataract syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	1
Hypergonadotropic hypogonadism with cataract syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Hypergonadotropic hypogonadism with cataract syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypergonadotropic hypogonadism with cataract syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Hypergonadotropic hypogonadism with cataract syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	1
Hypergonadotropic hypogonadism with cataract syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	1
Hypergonadotropic hypogonadism with cataract syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hypergonadotropic hypogonadism with cataract syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Hypergonadotropic hypogonadism with cataract syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hypergonadotropic hypogonadism with cataract syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Hypergonadotropic hypogonadism with cataract syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Hypergonadotropic hypogonadism with cataract syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Hypergonadotropic hypogonadism with cataract syndrome	Is a	Primary hypogonadism	true	Inferred relationship	Some
Hypergonadotropic hypogonadism with cataract syndrome	Associated morphology	Congenital cataract	false	Inferred relationship	Some	2
Hypergonadotropic hypogonadism with cataract syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Hypergonadotropic hypogonadism with cataract syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	2
Hypergonadotropic hypogonadism with cataract syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Hypergonadotropic hypogonadism with cataract syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	3
Hypergonadotropic hypogonadism with cataract syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3324718015	Hypergonadotropic hypogonadism with cataract syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3324719011	Hypergonadotropic hypogonadism with cataract syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3324720017	Lubinsky syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3324721018	Cataract and testicular failure syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3324722013	Syndrome with the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. An autosomal recessive mode of transmission appears likely.	en	Definition	Active	Case sensitive	SNOMED CT core