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190304001: Dyshormonogenic goiter (disorder)

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

\Viscus structure finding (finding)\Goiter\Dyshormonogenic goitre

\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goitre
\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Goiter\Dyshormonogenic goitre
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goitre
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Goiter\Dyshormonogenic goitre

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Dyshormonogenic goitre
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goitre
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital hypothyroidism\Dyshormonogenic goitre
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Dyshormonogenic goitre
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goitre
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goitre
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goitre
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Goiter\Dyshormonogenic goitre
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goitre
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Goiter\Dyshormonogenic goitre
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Dyshormonogenic goitre

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

292440010 Dyshormonogenic goitre en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

292441014 Dyshormonogenic goiter en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

573866011 Dyshormonogenic goiter (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5911281000241116 goitre dyshormonal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dyshormonogenic goitre	Is a	Goiter	true	Inferred relationship	Some
Dyshormonogenic goitre	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Dyshormonogenic goitre	Finding site	Thyroid structure	false	Inferred relationship	Some	1
Dyshormonogenic goitre	Associated morphology	Hyperplasia	false	Inferred relationship	Some	1
Dyshormonogenic goitre	Associated morphology	Hyperplasia	false	Inferred relationship	Some	1
Dyshormonogenic goitre	Finding site	Thyroid structure	false	Inferred relationship	Some	1
Dyshormonogenic goitre	Associated morphology	Enlargement (morphologic abnormality)	false	Inferred relationship	Some	2
Dyshormonogenic goitre	Finding site	Entire thyroid gland	false	Inferred relationship	Some	2
Dyshormonogenic goitre	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Dyshormonogenic goitre	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Dyshormonogenic goitre	Interprets	Thyroid hormone measurement (procedure)	false	Inferred relationship	Some	1
Dyshormonogenic goitre	Occurrence	Congenital	false	Inferred relationship	Some	3
Dyshormonogenic goitre	Is a	Thyroid hormone level above reference range (finding)	false	Inferred relationship	Some
Dyshormonogenic goitre	Has interpretation	Above reference range	false	Inferred relationship	Some	1
Dyshormonogenic goitre	Is a	Congenital hypothyroidism	true	Inferred relationship	Some
Dyshormonogenic goitre	Occurrence	Congenital	true	Inferred relationship	Some	1
Dyshormonogenic goitre	Finding site	Entire thyroid gland	true	Inferred relationship	Some	1
Dyshormonogenic goitre	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial dyshormonogenetic goitre	Is a	True	Dyshormonogenic goitre	Inferred relationship	Some
Hypothyroidism due to iodide trapping defect	Is a	False	Dyshormonogenic goitre	Inferred relationship	Some
Hypothyroidism due to iodide organification defect	Is a	False	Dyshormonogenic goitre	Inferred relationship	Some
Iodotyrosine deiodination defect	Is a	True	Dyshormonogenic goitre	Inferred relationship	Some
Iodotyrosyl coupling defect	Is a	True	Dyshormonogenic goitre	Inferred relationship	Some
Thyroglobulin synthesis defect	Is a	True	Dyshormonogenic goitre	Inferred relationship	Some
Pendred's syndrome	Is a	False	Dyshormonogenic goitre	Inferred relationship	Some
Dyshormonogenetic goiter AND iodide leak	Is a	True	Dyshormonogenic goitre	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
292440010	Dyshormonogenic goitre	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
292441014	Dyshormonogenic goiter	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
573866011	Dyshormonogenic goiter (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5911281000241116	goitre dyshormonal	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module