724000006: Retinohepatoendocrinologic syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\Retinohepatoendocrinologic syndrome

\Digestive system finding\Liver finding\Liver disease\Retinohepatoendocrinologic syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Retinohepatoendocrinologic syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Retinohepatoendocrinologic syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Retinohepatoendocrinologic syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Retinohepatoendocrinologic syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Retinohepatoendocrinologic syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Retinohepatoendocrinologic syndrome

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

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome

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

\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Retinohepatoendocrinologic syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Retinohepatoendocrinologic syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Retinohepatoendocrinologic syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Retinohepatoendocrinologic syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Retinohepatoendocrinologic syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Retinohepatoendocrinologic syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Retinohepatoendocrinologic syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Retinohepatoendocrinologic syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Retinohepatoendocrinologic syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Retinohepatoendocrinologic syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3481792012 Retinohepatoendocrinologic syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3481793019 Retinohepatoendocrinologic syndrome en Synonym Active Case insensitive SNOMED CT core
3481794013 RHE (retinohepatoendocrinologic) syndrome en Synonym Active Case sensitive SNOMED CT core
3481795014 RHE syndrome en Synonym Active Case sensitive SNOMED CT core
3481796010 Syndrome that is characterized by total color blindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family. en Definition Inactive Case sensitive SNOMED CT core
3481797018 Syndrome that is characterised by total colour blindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family. en Definition Inactive Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Retinohepatoendocrinologic syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Retinohepatoendocrinologic syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Retinohepatoendocrinologic syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Retinohepatoendocrinologic syndrome	Finding site	Liver structure	true	Inferred relationship	Some	1
Retinohepatoendocrinologic syndrome	Finding site	Cone of retina	true	Inferred relationship	Some	2
Retinohepatoendocrinologic syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Retinohepatoendocrinologic syndrome	Finding site	Structure of endocrine system	true	Inferred relationship	Some	3
Retinohepatoendocrinologic syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Retinohepatoendocrinologic syndrome	Is a	Liver disease	true	Inferred relationship	Some
Retinohepatoendocrinologic syndrome	Is a	Cone dystrophy	true	Inferred relationship	Some
Retinohepatoendocrinologic syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Retinohepatoendocrinologic syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Retinohepatoendocrinologic syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	3
Retinohepatoendocrinologic syndrome	Finding site	Liver structure	false	Inferred relationship	Some	3
Retinohepatoendocrinologic syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Some	4
Retinohepatoendocrinologic syndrome	Finding site	Retinal structure	false	Inferred relationship	Some	4
Retinohepatoendocrinologic syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Retinohepatoendocrinologic syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Retinohepatoendocrinologic syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Retinohepatoendocrinologic syndrome	Finding site	Structure of endocrine system	false	Inferred relationship	Some	5

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
3481792012	Retinohepatoendocrinologic syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3481793019	Retinohepatoendocrinologic syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3481794013	RHE (retinohepatoendocrinologic) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3481795014	RHE syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3481796010	Syndrome that is characterized by total color blindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.	en	Definition	Inactive	Case sensitive	SNOMED CT core
3481797018	Syndrome that is characterised by total colour blindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.	en	Definition	Inactive	Case sensitive	SNOMED CT core