773331001: Nestor Guillermo progeria syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Premature ageing syndrome\Nestor Guillermo progeria syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Premature ageing syndrome\Nestor Guillermo progeria syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Nestor Guillermo progeria syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Nestor Guillermo progeria syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Nestor Guillermo progeria syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Premature ageing syndrome\Nestor Guillermo progeria syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Degenerative disorder of bone\Osteolysis\Nestor Guillermo progeria syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Nestor Guillermo progeria syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Nestor Guillermo progeria syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Nestor Guillermo progeria syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteolysis\Nestor Guillermo progeria syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Nestor Guillermo progeria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Nestor Guillermo progeria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Nestor Guillermo progeria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Nestor Guillermo progeria syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Nestor Guillermo progeria syndrome
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Nestor Guillermo progeria syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Nestor Guillermo progeria syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Nestor Guillermo progeria syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Nestor Guillermo progeria syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Nestor Guillermo progeria syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Nestor Guillermo progeria syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Nestor Guillermo progeria syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteolysis\Nestor Guillermo progeria syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Nestor Guillermo progeria syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Nestor Guillermo progeria syndrome
• \Disease\Metabolic disease\Metabolic bone disease\Nestor Guillermo progeria syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Premature ageing syndrome\Nestor Guillermo progeria syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Nestor Guillermo progeria syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723205012	Nestor Guillermo progeria syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3723206013	Nestor Guillermo progeria syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3723207016	NGPS - Nestor Guillermo progeria syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3723208014	A rare genetic progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair. There is evidence the disease is caused by homozygous mutation in the BANF1 gene on chromosome 11q13.	en	Definition	Active	Case sensitive	SNOMED CT core
3723209018	A rare genetic progeroid syndrome characterised by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalised lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair. There is evidence the disease is caused by homozygous mutation in the BANF1 gene on chromosome 11q13.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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