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

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Hypoplastic tibia and postaxial polydactyly 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 hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Hypoplastic tibia and postaxial polydactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Hypoplastic tibia and postaxial polydactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly 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 hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hypoplastic tibia and postaxial polydactyly 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 hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hypoplastic tibia and postaxial polydactyly 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 hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Congenital hypoplasia of tibia\Hypoplastic tibia and postaxial polydactyly syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core
3307383018 Hypoplastic tibia and postaxial polydactyly syndrome en Synonym Active Case insensitive SNOMED CT core
3307384012 Werner mesomelic syndrome en Synonym Active Case sensitive SNOMED CT core
3307385013 Bilateral hypoplasia of tibia and postaxial polydactyly syndrome en Synonym Active Case insensitive 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 Inactive Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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	Case insensitive	SNOMED CT core
3307383018	Hypoplastic tibia and postaxial polydactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3307384012	Werner mesomelic syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3307385013	Bilateral hypoplasia of tibia and postaxial polydactyly syndrome	en	Synonym	Active	Case insensitive	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	Inactive	Case sensitive	SNOMED CT core