773426004: Lamin A/C related cardiocutaneous progeria syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Cardiovascular system hereditary disorder\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\LMNA-related cardiocutaneous progeria syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Cardiovascular system hereditary disorder\LMNA-related cardiocutaneous progeria syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\LMNA-related cardiocutaneous progeria syndrome
• \Disease\trouble métabolique\Inborn error of metabolism\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\LMNA-related cardiocutaneous progeria syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723511014	Lamin A/C related cardiocutaneous progeria syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723512019	LMNA-related cardiocutaneous progeria syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723513012	Lamin A/C related cardiocutaneous progeria syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723514018	A rare genetic premature ageing syndrome characterised by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (such as premature thinning and greying 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723515017	A rare genetic premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (such as 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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