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

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome
• \Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Laminopathy with premature ageing\LMNA-related cardiocutaneous progeria syndrome

Status: current, Primitive. 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	Active	Initial character case insensitive	SNOMED CT core
3723512019	LMNA-related cardiocutaneous progeria syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3723513012	Lamin A/C related cardiocutaneous progeria syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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