17885001: Iodotyrosine deiodination defect (disorder)

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

\Viscus structure finding (finding)\Goiter\Dyshormonogenic goiter\Iodotyrosine deiodination defect

\Finding of head and neck region\Finding of neck region\...

\Finding of thyroid gland\Disorder of thyroid gland\...

\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goiter\Iodotyrosine deiodination defect

\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect

\Goiter\Dyshormonogenic goiter\Iodotyrosine deiodination defect

\Disorder of neck (disorder)\Disorder of thyroid gland\...

\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goiter\Iodotyrosine deiodination defect

\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect

\Goiter\Dyshormonogenic goiter\Iodotyrosine deiodination defect

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Dyshormonogenic goiter\Iodotyrosine deiodination defect
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goiter\Iodotyrosine deiodination defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Iodotyrosine deiodination defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goiter\Iodotyrosine deiodination defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goiter\Iodotyrosine deiodination defect
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goiter\Iodotyrosine deiodination defect
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Goiter\Dyshormonogenic goiter\Iodotyrosine deiodination defect
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goiter\Iodotyrosine deiodination defect
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Goiter\Dyshormonogenic goiter\Iodotyrosine deiodination defect
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Dyshormonogenic goiter\Iodotyrosine deiodination defect
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\Metabolic disease\Enzymopathy\Iodotyrosine deiodination defect
\Disease\Congenital disease (disorder)\Congenital hypothyroidism\Dyshormonogenic goiter\Iodotyrosine deiodination defect
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Dyshormonogenic goiter\Iodotyrosine deiodination defect
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Iodotyrosine deiodination defect	Is a	Inherited disorder of thyroid metabolism	true	Inferred relationship	Some
Iodotyrosine deiodination defect	Is a	Hypothyroidism	false	Inferred relationship	Some
Iodotyrosine deiodination defect	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Iodotyrosine deiodination defect	Is a	Enzymopathy	true	Inferred relationship	Some
Iodotyrosine deiodination defect	Is a	Reproductive system hereditary disorder	false	Inferred relationship	Some
Iodotyrosine deiodination defect	Is a	Dyshormonogenic goiter	true	Inferred relationship	Some
Iodotyrosine deiodination defect	Is a	Hereditary disorder of endocrine system (disorder)	false	Inferred relationship	Some
Iodotyrosine deiodination defect	Finding site	Thyroid structure	false	Inferred relationship	Some	1
Iodotyrosine deiodination defect	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Iodotyrosine deiodination defect	Occurrence	Congenital	false	Inferred relationship	Some
Iodotyrosine deiodination defect	Associated morphology	Hyperplasia	false	Inferred relationship	Some	1
Iodotyrosine deiodination defect	Associated morphology	Hyperplasia	false	Inferred relationship	Some	1
Iodotyrosine deiodination defect	Finding site	Thyroid structure	false	Inferred relationship	Some	1
Iodotyrosine deiodination defect	Associated morphology	Enlargement (morphologic abnormality)	false	Inferred relationship	Some	2
Iodotyrosine deiodination defect	Finding site	Entire thyroid gland	false	Inferred relationship	Some	2
Iodotyrosine deiodination defect	Is a	Congenital hypothyroidism	false	Inferred relationship	Some
Iodotyrosine deiodination defect	Occurrence	Congenital	true	Inferred relationship	Some	1
Iodotyrosine deiodination defect	Interprets	Thyroid hormone measurement (procedure)	false	Inferred relationship	Some	3
Iodotyrosine deiodination defect	Has interpretation	Above reference range	false	Inferred relationship	Some	3
Iodotyrosine deiodination defect	Finding site	Entire thyroid gland	true	Inferred relationship	Some	1
Iodotyrosine deiodination defect	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
30214011	Iodotyrosine deiodination defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
30215012	Hypothyroidism due to iodotyrosine deiodinase defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
30216013	Genetic defect in thyroid hormonogenesis IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
30217016	Deiodinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
30219018	Iodotyrosine deiodinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
30220012	Iodotyrosine dehalogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
478440011	Hypothyroidism due to deiodase defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
745239012	Iodotyrosine deiodination defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
844101000052119	jodtyrosindejoderingsdefekt	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)