724001005: Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism 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\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism 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\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism 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\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism 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\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism 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\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism 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\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome

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

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\...

\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism 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\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3481803019 Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3481804013 Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3481805014 Retinitis pigmentosa, deafness, mental retardation, hypogonadism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Is a	Hypogonadism	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Is a	Autosomal recessive retinitis pigmentosa	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	1
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Existential restriction modifier	3
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	4
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier	4
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	1
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	5
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	6
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	7
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3481803019	Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3481804013	Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3481805014	Retinitis pigmentosa, deafness, mental retardation, hypogonadism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module