111567006: Refetoff syndrome (disorder)

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

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

\Finding of thyroid gland\Disorder of thyroid gland\...

\Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Generalized thyroid hormone resistance\Refetoff syndrome

\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Generalized thyroid hormone resistance\Refetoff syndrome

\Disorder of neck (disorder)\Disorder of thyroid gland\...

\Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Generalized thyroid hormone resistance\Refetoff syndrome

\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Generalized thyroid hormone resistance\Refetoff syndrome

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

178810015 Refetoff syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

632762017 Refetoff syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

7755141000172111 résistance généralisée aux hormones thyroïdiennes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7755151000172113 syndrome de Refetoff fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4954261000172117 Refetoff-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4954271000172114 syndroom van Refetoff nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Refetoff syndrome	Is a	Inherited disorder of thyroid metabolism	false	Inferred relationship	Some
Refetoff syndrome	Finding site	Thyroid structure	false	Inferred relationship	Some
Refetoff syndrome	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Refetoff syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Refetoff syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Refetoff syndrome	Finding site	Thyroid structure	true	Inferred relationship	Some	1
Refetoff syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Refetoff syndrome	Is a	Generalized thyroid hormone resistance	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

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Reference Sets

Description inactivation indicator reference set