22199006: Nail-patella syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Nail finding\Disorder of nail\...

\Genetic disorder of nail\Nail-patella syndrome

\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Nail-patella syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome

\Finding of limb structure\Nail finding\Disorder of nail\Genetic disorder of nail\Nail-patella syndrome
\Finding of limb structure\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Nail-patella syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Nail-patella syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\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\Nail-patella 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\Nail-patella syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Nail-patella 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\Nail-patella 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\Nail-patella 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\Nail-patella 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\Nail-patella 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\Nail-patella 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\Nail-patella syndrome

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Nail-patella syndrome
\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Nail-patella syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Nail-patella syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Nail-patella syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Nail-patella syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Nail-patella syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Nail-patella syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella 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\Nail-patella syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Nail-patella 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\Nail-patella syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Nail-patella syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Nail-patella syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Congenital dysplasia of patella\Nail-patella syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Nail-patella syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Nail-patella 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\Nail-patella syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Nail-patella syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Congenital dysplasia of patella\Nail-patella syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Nail-patella syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Congenital dysplasia of patella\Nail-patella syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Nail-patella syndrome

\Disease\Disorder of joint region\Disorder of knee\Disorder of patella\Congenital anomaly of patella\Congenital dysplasia of patella\Nail-patella syndrome
\Disease\Genetic disease\Genetic disorder of nail\Nail-patella syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Nail-patella syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Nail-patella syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Nail-patella syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Nail-patella syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Nail-patella syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Nail-patella syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Congenital dysplasia of patella\Nail-patella syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Nail-patella 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\Nail-patella 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\Nail-patella 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\Nail-patella syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Congenital dysplasia of patella\Nail-patella syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Nail-patella 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\Nail-patella syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Nail-patella syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Nail-patella syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella 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\Nail-patella syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Congenital dysplasia of patella\Nail-patella syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Congenital dysplasia of patella\Nail-patella 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\Nail-patella syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Congenital dysplasia of patella\Nail-patella syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Nail-patella syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Congenital dysplasia of patella\Nail-patella syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Nail-patella syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Congenital dysplasia of patella\Nail-patella syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Nail-patella syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Congenital dysplasia of patella\Nail-patella syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Nail-patella syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Nail-patella 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\Nail-patella syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Congenital dysplasia of patella\Nail-patella syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Nail-patella syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella\Congenital dysplasia of patella\Nail-patella syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Nail-patella syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of patella\Congenital dysplasia of patella\Nail-patella syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

37265017 Nail-patella syndrome en Synonym Active Case insensitive SNOMED CT core

37266016 Hereditary osteo-onychodysplasia en Synonym Active Case insensitive SNOMED CT core

3788235010 Turner Kieser syndrome en Synonym Active Case sensitive SNOMED CT core

3788236011 Onychoosteodysplasia en Synonym Active Case insensitive SNOMED CT core

481255018 Nail patella syndrome en Synonym Active Case insensitive SNOMED CT core

751579017 Nail-patella syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3788237019 Nail-patella syndrome is a rare hereditary patellar dysostosis with characteristics of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nail-patella syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Nail-patella syndrome	Finding site	Bone structure of patella	true	Inferred relationship	Some	3
Nail-patella syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Nail-patella syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Nail-patella syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Nail-patella syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Nail-patella syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Nail-patella syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	1
Nail-patella syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Nail-patella syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4
Nail-patella syndrome	Is a	Musculoskeletal and connective tissue disorder	false	Inferred relationship	Some
Nail-patella syndrome	Is a	Nail finding	false	Inferred relationship	Some
Nail-patella syndrome	Finding site	Nail unit structure	true	Inferred relationship	Some	2
Nail-patella syndrome	Is a	Disorder of digit	false	Inferred relationship	Some
Nail-patella syndrome	Is a	Genetic disorder of nail	true	Inferred relationship	Some
Nail-patella syndrome	Is a	Congenital anomaly of nail	true	Inferred relationship	Some
Nail-patella syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Nail-patella syndrome	Is a	Dysostosis	true	Inferred relationship	Some
Nail-patella syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Nail-patella syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Nail-patella syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Nail-patella syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Nail-patella syndrome	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Nail-patella syndrome	Is a	Multisystem disorder	false	Inferred relationship	Some
Nail-patella syndrome	Is a	Disorder of knee	false	Inferred relationship	Some
Nail-patella syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Nail-patella syndrome	Is a	Disorder of nail	false	Inferred relationship	Some
Nail-patella syndrome	Finding site	Connective tissue structure	false	Inferred relationship	Some	1
Nail-patella syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Nail-patella syndrome	Is a	Congenital skeletal dysplasia	false	Inferred relationship	Some
Nail-patella syndrome	Is a	Congenital anomaly of integument	false	Inferred relationship	Some
Nail-patella syndrome	Is a	Multisystem disorder M-N	false	Inferred relationship	Some
Nail-patella syndrome	Is a	Congenital dysplasia of patella	true	Inferred relationship	Some
Nail-patella syndrome	Is a	Congenital anomaly of lower limb	false	Inferred relationship	Some
Nail-patella syndrome	Is a	Congenital anomaly of integument	false	Inferred relationship	Some
Nail-patella syndrome	Is a	Congenital abnormality of lower limb and pelvic girdle	false	Inferred relationship	Some
Nail-patella syndrome	Finding site	Bone structure of patella	false	Inferred relationship	Some	1
Nail-patella syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Nail-patella syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Nail-patella syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2
Nail-patella syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Nail-patella syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Nail-patella syndrome	Finding site	Nail structure	false	Inferred relationship	Some
Nail-patella syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Nail-patella syndrome	Finding site	Bone structure of patella	false	Inferred relationship	Some	1
Nail-patella syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	1

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
37265017	Nail-patella syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
37266016	Hereditary osteo-onychodysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3788235010	Turner Kieser syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3788236011	Onychoosteodysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
481255018	Nail patella syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
751579017	Nail-patella syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3788237019	Nail-patella syndrome is a rare hereditary patellar dysostosis with characteristics of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.	en	Definition	Active	Case sensitive	SNOMED CT core