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

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

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

\Finding of thyroid gland\Disorder of thyroid gland\Hyperthyroidism\Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)

\Disorder of neck (disorder)\Disorder of thyroid gland\Hyperthyroidism\Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hyperthyroidism\Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hyperthyroidism\Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)

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

12152891000172114 hyperthyroïdie familiale due à une mutation du récepteur de la thyrotropine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12152901000172113 hyperthyroïdie familiale due à une mutation du récepteur de la TSH (thyroid stimulating hormone) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12152911000172111 hyperthyroïdie familiale due à une mutation du récepteur de la thyréostimuline fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4934861000172117 familiaire hyperthyreoïdie door mutatie in thyrotropinereceptor nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4934871000172114 familiaire hyperthyroïdie door mutatie in TSH-receptor nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4934881000172112 familiaire niet-immune hyperthyroïdie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

14614871000172116 familiale hyperthyroïdie door mutatie in TSH-receptor nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14614881000172118 familiale hyperthyreoïdie door mutatie in thyrotropinereceptor nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

14614891000172115 familiale niet-immune hyperthyroïdie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)	Due to	Thyroid hormone responsiveness defect	true	Inferred relationship	Some	2
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)	Is a	Hyperthyroidism	true	Inferred relationship	Some
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)	Finding site	Thyroid structure	false	Inferred relationship	Some
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)	Finding site	Thyroid structure	true	Inferred relationship	Some	1

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
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
12152891000172114	hyperthyroïdie familiale due à une mutation du récepteur de la thyrotropine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12152901000172113	hyperthyroïdie familiale due à une mutation du récepteur de la TSH (thyroid stimulating hormone)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12152911000172111	hyperthyroïdie familiale due à une mutation du récepteur de la thyréostimuline	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4934861000172117	familiaire hyperthyreoïdie door mutatie in thyrotropinereceptor	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4934871000172114	familiaire hyperthyroïdie door mutatie in TSH-receptor	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4934881000172112	familiaire niet-immune hyperthyroïdie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14614871000172116	familiale hyperthyroïdie door mutatie in TSH-receptor	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14614881000172118	familiale hyperthyreoïdie door mutatie in thyrotropinereceptor	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14614891000172115	familiale niet-immune hyperthyroïdie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)