66185005: Autosomal dominant excess of transthyretin (disorder)

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

\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroxine transport defect (disorder)\Autosomal dominant excess of transthyretin
\Finding of neck region\Disease of neck\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroxine transport defect (disorder)\Autosomal dominant excess of transthyretin

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroxine transport defect (disorder)\Autosomal dominant excess of transthyretin
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Thyroxine transport defect (disorder)\Autosomal dominant excess of transthyretin
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant excess of transthyretin
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroxine transport defect (disorder)\Autosomal dominant excess of transthyretin
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Thyroxine transport defect (disorder)\Autosomal dominant excess of transthyretin
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Thyroxine transport defect (disorder)\Autosomal dominant excess of transthyretin
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroxine transport defect (disorder)\Autosomal dominant excess of transthyretin
\Disease\Disease of neck\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroxine transport defect (disorder)\Autosomal dominant excess of transthyretin
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroxine transport defect (disorder)\Autosomal dominant excess of transthyretin

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
Autosomal dominant excess of transthyretin	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant excess of transthyretin	Is a	Thyroxine transport defect (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant excess of transthyretin	Is a	Hereditary disorder of endocrine system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant excess of transthyretin	Is a	Reproductive system hereditary disorder (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant excess of transthyretin	Finding site	Thyroid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant excess of transthyretin	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant excess of transthyretin	Interprets	Biological transport	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant excess of transthyretin	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant excess of transthyretin	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant excess of transthyretin	Finding site	Thyroid structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
109907014	Autosomal dominant excess of transthyretin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
805770015	Autosomal dominant excess of transthyretin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2647247015	Autosomal dominant excess of thyroxine-binding prealbumin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
109907014	Autosomal dominant excess of transthyretin	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
109907014	Autosomal dominant excess of transthyretin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
109908016	Autosomal dominant excess of thryroxine-binding prealbumin	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
805770015	Autosomal dominant excess of transthyretin (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
805770015	Autosomal dominant excess of transthyretin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2647247015	Autosomal dominant excess of thyroxine-binding prealbumin	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2647247015	Autosomal dominant excess of thyroxine-binding prealbumin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5757641000241119	excès de préalbumine autosomique dominant	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5757651000241116	excès de transthyrétine autosomique dominant	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5757641000241119	excès de préalbumine autosomique dominant	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5757651000241116	excès de transthyrétine autosomique dominant	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module