1251451005: Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of limb\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Deformity\Congenital deformity\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Finding of limb structure\Deformity of limb\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \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\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Congenital anomaly of musculoskeletal system\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5133543012	Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5133544018	Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5133545017	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5133552015	A rare arthrogryposis syndrome with characteristics of arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate and micrognathia.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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