50375007: Thyroid hormone responsiveness defect (disorder)

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

\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism (disorder)\Congenital hypothyroidism\Thyroid hormone responsiveness defect
\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism (disorder)\Congenital hypothyroidism\Thyroid hormone responsiveness defect
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\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 (disorder)\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hypothyroidism\Thyroid hormone responsiveness defect
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism (disorder)\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)\Disorder of thyroid gland\Hypothyroidism (disorder)\Congenital hypothyroidism\Thyroid hormone responsiveness defect
\Disease\Disorder of neck (disorder)\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

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

Descriptions:

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	Some
Thyroid hormone responsiveness defect	Is a	Hypothyroidism (disorder)	false	Inferred relationship	Some
Thyroid hormone responsiveness defect	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Thyroid hormone responsiveness defect	Finding site	Thyroid structure	false	Inferred relationship	Some
Thyroid hormone responsiveness defect	Occurrence	Congenital	false	Inferred relationship	Some
Thyroid hormone responsiveness defect	Is a	Congenital hypothyroidism	true	Inferred relationship	Some
Thyroid hormone responsiveness defect	Occurrence	Congenital	true	Inferred relationship	Some	1
Thyroid hormone responsiveness defect	Finding site	Thyroid structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Thyroid hormone resistance syndrome	Is a	True	Thyroid hormone responsiveness defect	Inferred relationship	Some
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.	Due to	True	Thyroid hormone responsiveness defect	Inferred relationship	Some	2
Peripheral resistance to thyroid hormone (disorder)	Is a	True	Thyroid hormone responsiveness defect	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	Is a	True	Thyroid hormone responsiveness defect	Inferred relationship	Some
A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.	Is a	True	Thyroid hormone responsiveness defect	Inferred relationship	Some

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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
83920017	Thyroid hormone unresponsiveness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
83923015	Congenital unresponsiveness to thyrotropin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
83928012	Unresponsiveness of thyroid gland to thyrotropin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
788156014	Thyroid hormone responsiveness defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5247688018	Hypothyroidism due to thyroid insensitivity to TSH (thyroid stimulating hormone)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1722081000005114	Thyroideahormonreaktionsdefekt	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)