716741008: Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Finding of limb structure (finding)\Finding of lower limb (finding)\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly 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
3307382011	Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307383018	Hypoplastic tibia and postaxial polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307384012	Werner mesomelic syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307385013	Bilateral hypoplasia of tibia and postaxial polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307382011	Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3307382011	Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307383018	Hypoplastic tibia and postaxial polydactyly syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3307383018	Hypoplastic tibia and postaxial polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307384012	Werner mesomelic syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307385013	Bilateral hypoplasia of tibia and postaxial polydactyly syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3307385013	Bilateral hypoplasia of tibia and postaxial polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307386014	A very rare congenital malformation syndrome with characteristics of bilateral hypoplasia of the tibia and polydactyly of the feet and hands. Prevalence is unknown but the syndrome is very rare with only a few case reports described in the literature. Additional findings include a thickened and/or duplicated fibula, hand syndactyly, and triphalangeal thumb. Autosomal dominant inheritance has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3387291001000118	Hypoplastische Tibia-postaxiale Polydaktylie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5477581000241115	syndrome du tibia hypoplasique et polydactylie bilatéral	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5477581000241115	syndrome du tibia hypoplasique et polydactylie bilatéral	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3387291001000118	Hypoplastische Tibia-postaxiale Polydaktylie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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