733068001: syndroom van afwezige tibia, polydactylie en arachnoïdale cyste (aandoening)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498668016	Holmes Collins syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498669012	Absent tibia, polydactyly, arachnoid cyst syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6206471000146111	syndroom van Holmes-Collins	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6967931000146119	syndroom van afwezige tibia, polydactylie en arachnoïdale cyste	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6967941000146110	syndroom van afwezige tibia, polydactylie en arachnoïdale cyste (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start