718194004: Hypothyroidism due to mutation in transcription factor of pituitary development (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Hypothyroidism due to mutation in transcription factor of pituitary development (disorder)
• \Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Hypothyroidism due to mutation in transcription factor of pituitary development (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hypothyroidism due to mutation in transcription factor of pituitary development (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hypothyroidism\Hypothyroidism due to mutation in transcription factor of pituitary development (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hypothyroidism due to mutation in transcription factor of pituitary development (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Hypothyroidism due to mutation in transcription factor of pituitary development (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Hypothyroidism due to mutation in transcription factor of pituitary development (disorder)
• \Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Hypothyroidism due to mutation in transcription factor of pituitary development (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
3311456017	Hypothyroidism due to mutation in transcription factor of pituitary development (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3311457014	Hypothyroidism due to mutation in transcription factor of pituitary development	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401710017	Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401711018	Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterised by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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