715531000: Tibial aplasia and ectrodactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Absence of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Finding of limb structure\Finding of lower limb\Absence of lower limb\Absence of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Absence of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Musculoskeletal finding\Bone finding\Bone absent\Absence of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Musculoskeletal finding\Bone finding\Bone absent\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Tibial aplasia and ectrodactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Tibial aplasia and ectrodactyly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Tibial aplasia and ectrodactyly 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 absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly 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\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Tibial aplasia and ectrodactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Tibial aplasia and ectrodactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of tibia\Tibial aplasia and ectrodactyly syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3302941014	Tibial aplasia and ectrodactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3302942019	Aplasia of tibia with split hand split foot deformity	en	Synonym	Active	Case insensitive	SNOMED CT core
3302943012	Tibial hemimelia ectrodactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3302944018	Split hand foot malformation with long bone deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
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	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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