50375007: Thyroid hormone responsiveness defect (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of thyroid gland\Disorder of thyroid gland\...

\Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect

\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect

\Disorder of neck\Disorder of thyroid gland\...

\Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect

\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect
\Disease\Disorder of neck\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect
\Disease\Disorder of neck\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect
\Disease\Congenital disease\Congenital hypothyroidism\Thyroid hormone responsiveness defect
\Disease\Congenital disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

83919011 Thyroid hormone responsiveness defect en Synonym Active Entire term case insensitive SNOMED CT core module

83920017 Thyroid hormone unresponsiveness en Synonym Active Entire term case insensitive SNOMED CT core module

83922013 Hypothyroidism due to thyroid insensitivity to TSH en Synonym Active Only initial character case insensitive SNOMED CT core module

83923015 Congenital unresponsiveness to thyrotropin en Synonym Active Entire term case insensitive SNOMED CT core module

83928012 Unresponsiveness of thyroid gland to thyrotropin en Synonym Active Entire term case insensitive SNOMED CT core module

788156014 Thyroid hormone responsiveness defect (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thyroid hormone responsiveness defect	Is a	Inherited disorder of thyroid metabolism	true	Inferred relationship	Existential restriction modifier
Thyroid hormone responsiveness defect	Is a	Hypothyroidism	false	Inferred relationship	Existential restriction modifier
Thyroid hormone responsiveness defect	Finding site	Entire endocrine gonad	false	Inferred relationship	Existential restriction modifier
Thyroid hormone responsiveness defect	Finding site	Thyroid structure	false	Inferred relationship	Existential restriction modifier
Thyroid hormone responsiveness defect	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Thyroid hormone responsiveness defect	Is a	Congenital hypothyroidism	true	Inferred relationship	Existential restriction modifier
Thyroid hormone responsiveness defect	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Thyroid hormone responsiveness defect	Finding site	Thyroid structure	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Thyroid hormone resistance syndrome	Is a	True	Thyroid hormone responsiveness defect	Inferred relationship	Existential restriction modifier
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor	Due to	True	Thyroid hormone responsiveness defect	Inferred relationship	Existential restriction modifier	2
Peripheral resistance to thyroid hormone	Is a	True	Thyroid hormone responsiveness defect	Inferred relationship	Existential restriction modifier
Monocarboxylate transporter 8 deficiency	Is a	True	Thyroid hormone responsiveness defect	Inferred relationship	Existential restriction modifier
Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation	Is a	True	Thyroid hormone responsiveness defect	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
83919011	Thyroid hormone responsiveness defect	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
83920017	Thyroid hormone unresponsiveness	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
83922013	Hypothyroidism due to thyroid insensitivity to TSH	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
83923015	Congenital unresponsiveness to thyrotropin	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
83928012	Unresponsiveness of thyroid gland to thyrotropin	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
788156014	Thyroid hormone responsiveness defect (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module