733068001: syndrome de tibia absent-polydactylie-kyste arachnoïdien (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Polymelia\polydactylie\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \masse d'une structure corporelle\lésion expansive du système nerveux\kyste du système nerveux central\Meningeal cyst\kyste arachnoïde (trouble)\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \lésion neurologique\lésion expansive du système nerveux\kyste du système nerveux central\Meningeal cyst\kyste arachnoïde (trouble)\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos des méninges\Disorder of meninges\Meningeal cyst\kyste arachnoïde (trouble)\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos des méninges\Disorder of meninges\Congenital malformation of the meninges\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\kyste du système nerveux central\Meningeal cyst\kyste arachnoïde (trouble)\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \constatation à propos du système nerveux central\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)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of meninges\Meningeal cyst\kyste arachnoïde (trouble)\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of meninges\Congenital malformation of the meninges\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\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\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\Cyst (disorder)\kyste du système nerveux central\Meningeal cyst\kyste arachnoïde (trouble)\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (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\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\kyste du système nerveux central\Meningeal cyst\kyste arachnoïde (trouble)\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of meninges\Meningeal cyst\kyste arachnoïde (trouble)\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\affection d'un système corporel\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\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\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\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Polymelia\polydactylie\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\Congenital disease\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\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\trouble du développement\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\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\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
762881000241115	syndrome de tibia absent-polydactylie-kyste arachnoïdien (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
886141000172113	syndrome de tibia absent-polydactylie-kyste arachnoïdien	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
915141000172112	syndrome de Holmes-Collins	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation 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