111567006: Refetoff syndrome (disorder)

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

\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
\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Thyroid hormone resistance syndrome\Generalized thyroid hormone resistance\Refetoff syndrome
\Finding of neck region\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
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\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

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

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Reference Sets

Description inactivation indicator reference set