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

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

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

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

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

3859791000052115 syndrom med hypoplasi av tibia och postaxial polydaktyli sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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

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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
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
3859791000052115	syndrom med hypoplasi av tibia och postaxial polydaktyli	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)