716743006: Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hyperthyroidism\A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
• \Finding of neck region\Disease of neck\Disorder of thyroid gland\Hyperthyroidism\A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of thyroid gland\Hyperthyroidism\A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
• \Disease\Disease of neck\Disorder of thyroid gland\Hyperthyroidism\A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3307392015	Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307393013	Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307394019	Familial non-immune hyperthyroidism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307395018	Familial non-autoimmune autosomal dominant hyperthyroidism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307396017	A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307397014	A rare hyperthyroidism characterised by mild to severe hyperthyroidism, presence of goitre, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307392015	Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3307392015	Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307393013	Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3307393013	Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307394019	Familial non-immune hyperthyroidism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3307394019	Familial non-immune hyperthyroidism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307395018	Familial non-autoimmune autosomal dominant hyperthyroidism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3307395018	Familial non-autoimmune autosomal dominant hyperthyroidism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307396017	A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307397014	A rare hyperthyroidism characterised by mild to severe hyperthyroidism, presence of goitre, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3439251001000116	Hyperthyreose durch TSH-Rezeptor-Genmutationen, familiäre Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6187801000241115	hyperthyroïdie familiale due à une mutation du récepteur de la thyrotropine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6187811000241118	hyperthyroïdie familiale due à une mutation du récepteur de la TSH (thyroid stimulating hormone)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6187821000241113	hyperthyroïdie familiale due à une mutation du récepteur de la thyréostimuline	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6187801000241115	hyperthyroïdie familiale due à une mutation du récepteur de la thyrotropine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6187811000241118	hyperthyroïdie familiale due à une mutation du récepteur de la TSH (thyroid stimulating hormone)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6187821000241113	hyperthyroïdie familiale due à une mutation du récepteur de la thyréostimuline	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3439251001000116	Hyperthyreose durch TSH-Rezeptor-Genmutationen, familiäre Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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