722378009: Congenital cataract with deafness and hypogonadism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract with deafness and hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with deafness and hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with deafness and hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome

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

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Congenital cataract with deafness and hypogonadism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital cataract with deafness and hypogonadism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Congenital cataract with deafness and hypogonadism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Congenital cataract with deafness and hypogonadism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital cataract with deafness and hypogonadism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Congenital cataract with deafness and hypogonadism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Congenital cataract with deafness and hypogonadism syndrome

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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Congenital cataract with deafness and hypogonadism syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Congenital cataract with deafness and hypogonadism syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital cataract with deafness and hypogonadism syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Congenital cataract with deafness and hypogonadism syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Congenital cataract with deafness and hypogonadism syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Congenital cataract with deafness and hypogonadism syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital cataract with deafness and hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism 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\Congenital cataract with deafness and hypogonadism syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3331751018 Congenital cataract with deafness and hypogonadism syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3331752013 Congenital cataract with deafness and hypogonadism syndrome en Synonym Active Case insensitive SNOMED CT core

3331753015 Schaap Taylor Baraitser syndrome en Synonym Active Case sensitive SNOMED CT core

3331754014 An extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, with the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital cataract with deafness and hypogonadism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital cataract with deafness and hypogonadism syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	2
Congenital cataract with deafness and hypogonadism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital cataract with deafness and hypogonadism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Congenital cataract with deafness and hypogonadism syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	1
Congenital cataract with deafness and hypogonadism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital cataract with deafness and hypogonadism syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	1
Congenital cataract with deafness and hypogonadism syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	1
Congenital cataract with deafness and hypogonadism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Congenital cataract with deafness and hypogonadism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital cataract with deafness and hypogonadism syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Congenital cataract with deafness and hypogonadism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Congenital cataract with deafness and hypogonadism syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Congenital cataract with deafness and hypogonadism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Congenital cataract with deafness and hypogonadism syndrome	Is a	Hypogonadism	true	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Is a	Sensorineural hearing loss	false	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	3
Congenital cataract with deafness and hypogonadism syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Congenital cataract with deafness and hypogonadism syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Congenital cataract with deafness and hypogonadism syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	5
Congenital cataract with deafness and hypogonadism syndrome	Associated morphology	Congenital cataract	false	Inferred relationship	Some	6
Congenital cataract with deafness and hypogonadism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Congenital cataract with deafness and hypogonadism syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	6
Congenital cataract with deafness and hypogonadism 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

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331751018	Congenital cataract with deafness and hypogonadism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331752013	Congenital cataract with deafness and hypogonadism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331753015	Schaap Taylor Baraitser syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3331754014	An extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, with the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.	en	Definition	Active	Case sensitive	SNOMED CT core