720752007: Coxopodopatellar syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of knee\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Finding of patella structure\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of knee\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Finding of limb structure\Finding of lower limb\Finding of knee region\Finding of patella structure\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Finding of limb structure\Finding of lower limb\Finding of knee region\Disorder of knee\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Finding of patella structure\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Coxopodopatellar syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Coxopodopatellar syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Coxopodopatellar syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Coxopodopatellar syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Coxopodopatellar syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Coxopodopatellar syndrome

\Disease\Disorder of joint region\Disorder of knee\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Coxopodopatellar syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Coxopodopatellar syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Coxopodopatellar syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Coxopodopatellar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Coxopodopatellar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Coxopodopatellar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar 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 patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Coxopodopatellar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Coxopodopatellar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Coxopodopatellar syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of knee\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Coxopodopatellar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Coxopodopatellar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Coxopodopatellar syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Coxopodopatellar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Coxopodopatellar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Coxopodopatellar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Congenital dysplasia of patella\Coxopodopatellar syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3321998013 Coxopodopatellar syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3321999017 Coxopodopatellar syndrome en Synonym Active Case insensitive SNOMED CT core

3322000011 Ischiopatellar dysplasia en Synonym Active Case insensitive SNOMED CT core

3322001010 Scott Taor syndrome en Synonym Active Case sensitive SNOMED CT core

3322002015 Small patella syndrome en Synonym Active Case insensitive SNOMED CT core

3322003013 A very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Less than 50 patients have been reported worldwide. The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies. Craniofacial anomalies have been reported occasionally. Inherited in an autosomal dominant manner and is caused by mutations in the human TBX4 gene (chromosome 17q22). TBX4 mutations account for familial cases with a distinctive facial appearance and those without facial features. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Coxopodopatellar syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Coxopodopatellar syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Coxopodopatellar syndrome	Is a	Congenital dysplasia of patella	true	Inferred relationship	Some
Coxopodopatellar syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Coxopodopatellar syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Coxopodopatellar syndrome	Is a	Congenital anomaly of lower limb	false	Inferred relationship	Some
Coxopodopatellar syndrome	Is a	Dysostosis	true	Inferred relationship	Some
Coxopodopatellar syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Coxopodopatellar syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Coxopodopatellar syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Coxopodopatellar syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Coxopodopatellar syndrome	Finding site	Bone structure of patella	true	Inferred relationship	Some	1
Coxopodopatellar syndrome	Is a	Disorder of patella	false	Inferred relationship	Some

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
3321998013	Coxopodopatellar syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321999017	Coxopodopatellar syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322000011	Ischiopatellar dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3322001010	Scott Taor syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322002015	Small patella syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322003013	A very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Less than 50 patients have been reported worldwide. The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies. Craniofacial anomalies have been reported occasionally. Inherited in an autosomal dominant manner and is caused by mutations in the human TBX4 gene (chromosome 17q22). TBX4 mutations account for familial cases with a distinctive facial appearance and those without facial features.	en	Definition	Active	Case sensitive	SNOMED CT core