56112001: Thyroxine transport defect (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)
\Finding of neck region\Disease of neck\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroxine transport defect (disorder)

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

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

Descriptions:

Id Description Lang Type Status Case? Module

93320012 Thyroxine transport defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

794589010 Thyroxine transport defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

93320012 Thyroxine transport defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

93320012 Thyroxine transport defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

794589010 Thyroxine transport defect (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

794589010 Thyroxine transport defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4573671000241112 anomalie du transport de la thyroxine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4573671000241112 anomalie du transport de la thyroxine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thyroxine transport defect (disorder)	Is a	Inherited disorder of thyroid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Thyroxine transport defect (disorder)	Interprets	Biological transport	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thyroxine transport defect (disorder)	Finding site	Thyroid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thyroxine transport defect (disorder)	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thyroxine transport defect (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thyroxine transport defect (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thyroxine transport defect (disorder)	Finding site	Thyroid structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant variant form of albumin	Is a	True	Thyroxine transport defect (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked absence of thyroxine-binding globulin	Is a	True	Thyroxine transport defect (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked reduction of thyroxine-binding globulin	Is a	True	Thyroxine transport defect (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked excess of thyroxine-binding globulin	Is a	True	Thyroxine transport defect (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant excess of transthyretin	Is a	True	Thyroxine transport defect (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked variant form of thyroxine-binding globulin	Is a	True	Thyroxine transport defect (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Thyroxine plasma membrane transport defect (disorder)	Is a	True	Thyroxine transport defect (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set