724205009: Laminopathy type Decaudain Vigouroux (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3481698017	Laminopathy type Decaudain Vigouroux (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3481699013	Laminopathy type Decaudain Vigouroux	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3481700014	Laminopathy with severe metabolic syndrome and myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481701013	Syndrome that is characterized by severe metabolic alterations (insulin resistance or hyperinsulinemia, hypertriglyceridemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness. So far, nine cases have been reported. Two of these patients also displayed cardiac conduction disturbances. The syndrome is caused by non-codon mutations at residue 482 of the LMNA gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3481702018	Syndrome that is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness. So far, nine cases have been reported. Two of these patients also displayed cardiac conduction disturbances. The syndrome is caused by non-codon mutations at residue 482 of the LMNA gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

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