1230272009: Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Thyroid hormone responsiveness defect\A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
• \Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Thyroid hormone responsiveness defect\A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Thyroid hormone responsiveness defect\A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Thyroid hormone responsiveness defect\A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Thyroid hormone responsiveness defect\A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Thyroid hormone responsiveness defect\A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Thyroid hormone responsiveness defect\A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
• \Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Thyroid hormone responsiveness defect\A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5400134013	A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5068621019	Hypothyroidism due to TSH receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5068622014	Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5068623016	Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5068626012	Hypothyroidism due to TSHR (thyroid stimulating hormone receptor) mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3422631001000115	Hypothyreose durch TSH-Rezeptor-Genmutationen	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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