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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly 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 hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly 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 hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly 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 hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Finding of limb structure\Finding of lower limb\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 of lower 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 of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly 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 hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)

\Musculoskeletal 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\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Bilateral hypoplasia of tibia and postaxial polydactyly 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 hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\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 body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Bilateral hypoplasia of tibia and postaxial polydactyly 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 hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly 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 hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly 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 hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Congenital disease (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\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\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\Developmental hereditary disorder\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly 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 hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Developmental 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\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Is a	Congenital hypoplasia of tibia	true	Inferred relationship	Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Is a	Polydactyly (disorder)	true	Inferred relationship	Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Finding site	Bone structure of tibia	true	Inferred relationship	Some	2
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	3
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	3
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	1
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	1
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
5470191000172116	syndrome du tibia hypoplasique et polydactylie bilatéral	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5470201000172118	syndrome mésomélique de Werner	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5470211000172115	syndroom van bilaterale hypoplasie van tibia en postaxiale polydactylie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5470221000172113	syndroom van bilaterale hypoplasie van scheenbeen en postaxiale polydactylie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)