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724000006: Retinohepatoendocrinologic syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Retinohepatoendocrinologic syndrome (disorder)

\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Retinohepatoendocrinologic syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Retinohepatoendocrinologic syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary retinal dystrophy\Retinohepatoendocrinologic syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Retinohepatoendocrinologic syndrome (disorder)
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Retinohepatoendocrinologic syndrome (disorder)
\Disease\Disorder of body system\Hereditary retinal dystrophy\Retinohepatoendocrinologic syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Retinohepatoendocrinologic syndrome (disorder)

Status: current. Date: 31-Jul 2017

Descriptions:

Id Description Lang Type Status Case? Module

3481792012 Retinohepatoendocrinologic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481793019 Retinohepatoendocrinologic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481794013 RHE (retinohepatoendocrinologic) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3481795014 RHE syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Retinohepatoendocrinologic syndrome (disorder)	Is a	Hereditary retinal dystrophy	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Retinohepatoendocrinologic syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Retinohepatoendocrinologic syndrome (disorder)	Is a	Structural abnormality of liver (disorder)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Retinohepatoendocrinologic syndrome (disorder)	Associated morphology	Degenerative abnormality	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Retinohepatoendocrinologic syndrome (disorder)	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Retinohepatoendocrinologic syndrome (disorder)	Associated morphology	Dystrophy	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Retinohepatoendocrinologic syndrome (disorder)	Finding site	Cone of retina	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Retinohepatoendocrinologic syndrome (disorder)	Finding site	Structure of endocrine system (body structure)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3481792012	Retinohepatoendocrinologic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481793019	Retinohepatoendocrinologic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481794013	RHE (retinohepatoendocrinologic) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3481795014	RHE syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core