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190304001: dyshormonogene struma (aandoening)

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

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

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

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dyshormonogenic goiter	Is a	Goiter	true	Inferred relationship	Some
Dyshormonogenic goiter	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Dyshormonogenic goiter	Finding site	Thyroid structure	false	Inferred relationship	Some	1
Dyshormonogenic goiter	Associated morphology	Hyperplasia	false	Inferred relationship	Some	1
Dyshormonogenic goiter	Associated morphology	Hyperplasia	false	Inferred relationship	Some	1
Dyshormonogenic goiter	Finding site	Thyroid structure	false	Inferred relationship	Some	1
Dyshormonogenic goiter	Associated morphology	Enlargement (morphologic abnormality)	false	Inferred relationship	Some	2
Dyshormonogenic goiter	Finding site	Entire thyroid gland	false	Inferred relationship	Some	2
Dyshormonogenic goiter	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Dyshormonogenic goiter	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Dyshormonogenic goiter	Interprets	Thyroid hormone measurement (procedure)	false	Inferred relationship	Some	1
Dyshormonogenic goiter	Occurrence	Congenital	false	Inferred relationship	Some	3
Dyshormonogenic goiter	Is a	Thyroid hormone level above reference range (finding)	false	Inferred relationship	Some
Dyshormonogenic goiter	Has interpretation	Above reference range	false	Inferred relationship	Some	1
Dyshormonogenic goiter	Is a	Congenital hypothyroidism	true	Inferred relationship	Some
Dyshormonogenic goiter	Occurrence	Congenital	true	Inferred relationship	Some	1
Dyshormonogenic goiter	Finding site	Entire thyroid gland	true	Inferred relationship	Some	1
Dyshormonogenic goiter	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 goiter	Inferred relationship	Some
Hypothyroidism due to iodide trapping defect	Is a	False	Dyshormonogenic goiter	Inferred relationship	Some
Hypothyroidism due to iodide organification defect	Is a	False	Dyshormonogenic goiter	Inferred relationship	Some
Iodotyrosine deiodination defect	Is a	True	Dyshormonogenic goiter	Inferred relationship	Some
Iodotyrosyl coupling defect	Is a	True	Dyshormonogenic goiter	Inferred relationship	Some
Thyroglobulin synthesis defect	Is a	True	Dyshormonogenic goiter	Inferred relationship	Some
Pendred's syndrome	Is a	False	Dyshormonogenic goiter	Inferred relationship	Some
Dyshormonogenetic goiter AND iodide leak	Is a	True	Dyshormonogenic goiter	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

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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
366821000146119	dyshormonogene struma	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
366831000146117	dyshormonogene struma (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)