63127008: thyroglobulinesynthesedefect (aandoening)

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

\Viscus structure finding (finding)\Goiter\Dyshormonogenic goiter\Thyroglobulin synthesis defect

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

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Dyshormonogenic goiter\Thyroglobulin synthesis defect
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroglobulin synthesis defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goiter\Thyroglobulin synthesis defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Thyroglobulin synthesis defect
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hypothyroidism\Dyshormonogenic goiter\Thyroglobulin synthesis defect
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Dyshormonogenic goiter\Thyroglobulin synthesis defect
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroglobulin synthesis defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goiter\Thyroglobulin synthesis defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Thyroglobulin synthesis defect
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goiter\Thyroglobulin synthesis defect
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Thyroglobulin synthesis defect
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goiter\Thyroglobulin synthesis defect
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroglobulin synthesis defect
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Goiter\Dyshormonogenic goiter\Thyroglobulin synthesis defect
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Dyshormonogenic goiter\Thyroglobulin synthesis defect
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroglobulin synthesis defect
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Goiter\Dyshormonogenic goiter\Thyroglobulin synthesis defect
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Dyshormonogenic goiter\Thyroglobulin synthesis defect
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroglobulin synthesis 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
Thyroglobulin synthesis defect	Is a	Inherited disorder of thyroid metabolism	true	Inferred relationship	Some
Thyroglobulin synthesis defect	Is a	Hypothyroidism	false	Inferred relationship	Some
Thyroglobulin synthesis defect	Is a	Dyshormonogenic goiter	true	Inferred relationship	Some
Thyroglobulin synthesis defect	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Thyroglobulin synthesis defect	Finding site	Thyroid structure	false	Inferred relationship	Some	1
Thyroglobulin synthesis defect	Occurrence	Congenital	false	Inferred relationship	Some
Thyroglobulin synthesis defect	Associated morphology	Hyperplasia	false	Inferred relationship	Some	1
Thyroglobulin synthesis defect	Associated morphology	Hyperplasia	false	Inferred relationship	Some	1
Thyroglobulin synthesis defect	Finding site	Thyroid structure	false	Inferred relationship	Some	1
Thyroglobulin synthesis defect	Associated morphology	Enlargement (morphologic abnormality)	false	Inferred relationship	Some	2
Thyroglobulin synthesis defect	Finding site	Entire thyroid gland	false	Inferred relationship	Some	2
Thyroglobulin synthesis defect	Is a	Congenital hypothyroidism	false	Inferred relationship	Some
Thyroglobulin synthesis defect	Occurrence	Congenital	true	Inferred relationship	Some	1
Thyroglobulin synthesis defect	Interprets	Thyroid hormone measurement (procedure)	false	Inferred relationship	Some	3
Thyroglobulin synthesis defect	Has interpretation	Above reference range	false	Inferred relationship	Some	3
Thyroglobulin synthesis defect	Finding site	Entire thyroid gland	true	Inferred relationship	Some	1
Thyroglobulin synthesis 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
104935010	Thyroglobulin synthesis defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
104936011	Hypothyroidism due to thyroglobulin biosynthetic defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
104937019	Genetic defect in thyroid hormonogenesis V	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
499490011	Hypothyroidism due to thyroglobulin synthesis defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
802376015	Thyroglobulin synthesis defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6070831000146113	thyroglobulinesynthesedefect	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6070841000146117	thyroglobulinesynthesedefect (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6108241000146119	defect in thyroglobulinesynthese	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)