718183003: Familial thyroid dyshormonogenesis (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Familial thyroid dyshormonogenesis (disorder)
• \Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism\Primary hypothyroidism\Familial thyroid dyshormonogenesis (disorder)
• \Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Familial thyroid dyshormonogenesis (disorder)
• \Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Primary hypothyroidism\Familial thyroid dyshormonogenesis (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial thyroid dyshormonogenesis (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hypothyroidism\Familial thyroid dyshormonogenesis (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial thyroid dyshormonogenesis (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Familial thyroid dyshormonogenesis (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Familial thyroid dyshormonogenesis (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Primary hypothyroidism\Familial thyroid dyshormonogenesis (disorder)
• \Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Familial thyroid dyshormonogenesis (disorder)
• \Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Primary hypothyroidism\Familial thyroid dyshormonogenesis (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
3311173012	Familial thyroid dyshormonogenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3311174018	Familial thyroid dyshormonogenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401703011	Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.	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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