715531000: Tibial aplasia and ectrodactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Aplasia of limb\Aplasia of bone structure of extremity\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Absence of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Absence of lower limb (finding)\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Absence of lower limb (finding)\Absence of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Absence of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Bone absent (finding)\Absence of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Bone absent (finding)\Congenital absence of skeletal bone\Aplasia of bone structure of extremity\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Bone absent (finding)\Congenital absence of skeletal bone\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Aplasia of bone structure of extremity\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly 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 absence of skeletal bone\Aplasia of bone structure of extremity\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly 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 absence of skeletal bone\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Aplasia of bone structure of extremity\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Tibial aplasia and ectrodactyly 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)\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly 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 absence of skeletal bone\Aplasia of bone structure of extremity\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly 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 absence of skeletal bone\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Aplasia of bone structure of extremity\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly 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 absence of skeletal bone\Aplasia of bone structure of extremity\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly 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 absence of skeletal bone\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Aplasia of bone structure of extremity\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Aplasia of limb\Aplasia of bone structure of extremity\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Aplasia of bone structure of extremity\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Aplasia of bone structure of extremity\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\Aplasia of bone structure of extremity\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital absence of tibia\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Aplasia of bone of lower limb\Aplasia of tibia\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Aplasia 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
5400950018	Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400951019	Tibial aplasia-ectrodactyly syndrome is a rare condition characterised by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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