17885001: Iodotyrosine deiodination defect (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Goitre\Dyshormonogenic goitre\Iodotyrosine deiodination defect

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

\Finding of thyroid gland\Thyroid disease\...

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

\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect

\Goitre\Dyshormonogenic goitre\Iodotyrosine deiodination defect

\Disorder of neck\Thyroid disease\...

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

\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect

\Goitre\Dyshormonogenic goitre\Iodotyrosine deiodination defect

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Dyshormonogenic goitre\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\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\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\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\Disorder of body system\Disorder of endocrine system\Thyroid disease\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\Disorder of body system\Disorder of endocrine system\Thyroid disease\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\Disorder of body system\Disorder of endocrine system\Thyroid disease\Goitre\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\Disorder of neck\Thyroid disease\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\Disorder of neck\Thyroid disease\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\Disorder of neck\Thyroid disease\Goitre\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Dyshormonogenic goitre\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\Congenital hypothyroidism\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\Congenital disease\Inborn error of metabolism\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\Congenital disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

30214011 Iodotyrosine deiodination defect en Synonym Active Case insensitive SNOMED CT core

30215012 Hypothyroidism due to iodotyrosine deiodinase defect en Synonym Active Case insensitive SNOMED CT core

30216013 Genetic defect in thyroid hormonogenesis IV en Synonym Active Initial character case insensitive SNOMED CT core

30217016 Deiodinase deficiency en Synonym Active Case insensitive SNOMED CT core

30219018 Iodotyrosine deiodinase deficiency en Synonym Active Case insensitive SNOMED CT core

30220012 Iodotyrosine dehalogenase deficiency en Synonym Active Case insensitive SNOMED CT core

478440011 Hypothyroidism due to deiodase defect en Synonym Active Case insensitive SNOMED CT core

745239012 Iodotyrosine deiodination defect (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Iodotyrosine deiodination defect	Interprets	Thyroid hormone measurement	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	true	Inferred relationship	Some	1
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 goitre	true	Inferred relationship	Some
Iodotyrosine deiodination defect	Is a	Hereditary disorder of endocrine system	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	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	Finding site	Thyroid structure	false	Inferred relationship	Some	1
Iodotyrosine deiodination defect	Finding site	Entire endocrine gonad	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
30214011	Iodotyrosine deiodination defect	en	Synonym	Active	Case insensitive	SNOMED CT core
30215012	Hypothyroidism due to iodotyrosine deiodinase defect	en	Synonym	Active	Case insensitive	SNOMED CT core
30216013	Genetic defect in thyroid hormonogenesis IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
30217016	Deiodinase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
30219018	Iodotyrosine deiodinase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
30220012	Iodotyrosine dehalogenase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
478440011	Hypothyroidism due to deiodase defect	en	Synonym	Active	Case insensitive	SNOMED CT core
745239012	Iodotyrosine deiodination defect (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core