23536000: defect in jodotyrosylkoppeling (aandoening)

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

\Viscus structure finding (finding)\Goiter\Dyshormonogenic goiter\Iodotyrosyl coupling defect

\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Iodotyrosyl coupling defect
\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Goiter\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Iodotyrosyl coupling defect
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Goiter\Dyshormonogenic goiter\Iodotyrosyl coupling defect

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Iodotyrosyl coupling defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Iodotyrosyl coupling defect
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hypothyroidism\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Iodotyrosyl coupling defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Iodotyrosyl coupling defect
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Iodotyrosyl coupling defect
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Iodotyrosyl coupling defect
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Goiter\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Iodotyrosyl coupling defect
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Goiter\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Dyshormonogenic goiter\Iodotyrosyl coupling defect
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Iodotyrosyl coupling 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
Iodotyrosyl coupling defect	Is a	Hypothyroidism	false	Inferred relationship	Some
Iodotyrosyl coupling defect	Is a	Inherited disorder of thyroid metabolism	true	Inferred relationship	Some
Iodotyrosyl coupling defect	Is a	Dyshormonogenic goiter	true	Inferred relationship	Some
Iodotyrosyl coupling defect	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Iodotyrosyl coupling defect	Finding site	Thyroid structure	false	Inferred relationship	Some	1
Iodotyrosyl coupling defect	Occurrence	Congenital	false	Inferred relationship	Some
Iodotyrosyl coupling defect	Associated morphology	Hyperplasia	false	Inferred relationship	Some	1
Iodotyrosyl coupling defect	Associated morphology	Hyperplasia	false	Inferred relationship	Some	1
Iodotyrosyl coupling defect	Finding site	Thyroid structure	false	Inferred relationship	Some	1
Iodotyrosyl coupling defect	Associated morphology	Enlargement (morphologic abnormality)	false	Inferred relationship	Some	2
Iodotyrosyl coupling defect	Finding site	Entire thyroid gland	false	Inferred relationship	Some	2
Iodotyrosyl coupling defect	Is a	Congenital hypothyroidism	false	Inferred relationship	Some
Iodotyrosyl coupling defect	Occurrence	Congenital	true	Inferred relationship	Some	1
Iodotyrosyl coupling defect	Interprets	Thyroid hormone measurement (procedure)	false	Inferred relationship	Some	3
Iodotyrosyl coupling defect	Has interpretation	Above reference range	false	Inferred relationship	Some	3
Iodotyrosyl coupling defect	Finding site	Entire thyroid gland	true	Inferred relationship	Some	1
Iodotyrosyl coupling defect	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
39519010	Iodotyrosyl coupling defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
39520016	Congenital thyroid hormone coupling defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
39522012	Thyroid hormone coupling defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
39523019	Genetic defect in thyroid hormonogenesis III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
753068012	Iodotyrosyl coupling defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1223110012	Hypothyroidism due to coupling defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4590908018	GDTH III - genetic defect in thyroid hormonogenesis III	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7089611000146118	jodotyrosylkoppelingsdefect	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7089621000146111	defect in jodotyrosylkoppeling	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7671151000146114	defect in jodotyrosylkoppeling (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)