715531000: syndrome de tibia aplasique-ectrodactylie (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)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Finding of bone of lower limb (finding)\Absence of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Absence of lower limb (finding)\Absence of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Finding of bone of lower limb (finding)\Absence of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Bone absent\Absence of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Bone absent\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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 absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly 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 absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly 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 absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302940010	Tibial aplasia and ectrodactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302941014	Tibial aplasia and ectrodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302942019	Aplasia of tibia with split hand split foot deformity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302943012	Tibial hemimelia ectrodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302944018	Split hand foot malformation with long bone deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
747801000241117	syndrome de tibia aplasique-ectrodactylie (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
883751000172117	syndrome de tibia aplasique-ectrodactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
993831000172114	aplasie du tibia avec anomalie des mains et pieds fendus	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3302946016	A rare condition with features of congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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