702361006: Crouzon syndrome with acanthosis nigricans (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\...
• \Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Functional finding\Abnormal keratinisation\Disorder of keratinisation\Acanthosis nigricans\Crouzon syndrome with acanthosis nigricans
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Crouzon syndrome with acanthosis nigricans
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Acanthosis nigricans\Crouzon syndrome with acanthosis nigricans
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Acanthosis nigricans\Crouzon syndrome with acanthosis nigricans
• \Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Crouzon syndrome with acanthosis nigricans
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Acanthosis nigricans\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Developmental disorder\Developmental hereditary disorder\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2995059010	Crouzon syndrome with acanthosis nigricans (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
2995457019	Crouzon syndrome with acanthosis nigricans	en	Synonym	Active	Case sensitive	SNOMED CT core
3010153011	Crouzonodermoskeletal syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4022295011	A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance.	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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