111567006: Refetoff syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2025. 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	false	Inferred relationship	Some	1
Refetoff syndrome	Finding site	Thyroid structure	false	Inferred relationship	Some	1
Refetoff syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Refetoff syndrome	Is a	Generalized thyroid hormone resistance	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)