733068001: Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Mass of body structure\Space-occupying lesion of nervous system\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Neurological lesion\Space-occupying lesion of nervous system\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Central nervous system finding\Finding of meninges\Disorder of meninges\Meningeal cyst\Arachnoid cyst\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Central nervous system finding\Finding of meninges\Disorder of meninges\Congenital malformation of the meninges\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Central nervous system finding\Disorder of the central nervous system\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of meninges\Meningeal cyst\Arachnoid cyst\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of meninges\Congenital malformation of the meninges\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Cyst\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of meninges\Meningeal cyst\Arachnoid cyst\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of meninges\Congenital malformation of the meninges\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Absent tibia, polydactyly, arachnoid cyst syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498667014	Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498668016	Holmes Collins syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3498669012	Absent tibia, polydactyly, arachnoid cyst syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3499956018	A very rare constellation of multiple anomalies including absence or hypoplasia of the tibia. It has been described in 3 siblings (two males and one female). The syndrome has characteristics of the absence or hypoplasia of the tibia, pre and postaxial polydactyly of the hands and/or feet, syndactyly of the toes, shortening and bowing of other long bones, and retrocerebellar arachnoid cyst. Parental consanguinity reported in the family suggests an autosomal recessive pattern of inheritance.	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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