1177118004: Laminopathy with premature aging (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4643441014 Laminopathy with premature aging (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4643442019 Laminopathy with premature aging en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4643443012 Laminopathy with premature ageing en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6327851000241117 laminopathie avec vieillissement prématuré 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
Laminopathy with premature aging (disorder)	Is a	Premature aging syndrome (disorder)	true	Inferred relationship	Some
Laminopathy with premature aging (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Laminopathy with premature aging (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hutchinson-Gilford syndrome	Is a	True	Laminopathy with premature aging (disorder)	Inferred relationship	Some
Lethal tight skin contracture syndrome (disorder)	Is a	True	Laminopathy with premature aging (disorder)	Inferred relationship	Some
LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.	Is a	True	Laminopathy with premature aging (disorder)	Inferred relationship	Some
A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.	Is a	True	Laminopathy with premature aging (disorder)	Inferred relationship	Some

This concept is not in any reference sets