22199006: Nail-patella syndrome (disorder)

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

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

\Nail finding\Disorder of nail (disorder)\...

\Genetic disorder of nail (disorder)\Nail-patella syndrome

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

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

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Nail-patella syndrome
\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Congenital anomaly of nail\Nail-patella syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Nail-patella syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Nail-patella syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of nail (disorder)\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)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Congenital anomaly of nail\Nail-patella syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Nail-patella syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\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)\Disorder of skin (disorder)\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\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Congenital anomaly of nail\Nail-patella syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Nail-patella syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Nail-patella syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Congenital anomaly of nail\Nail-patella syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Nail-patella syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome

\Disease\Disorder of joint region\Disorder of knee (disorder)\Disorder of patella (disorder)\Structural abnormality of patella (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Genetic disease\Genetic disorder of nail (disorder)\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\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Patella dysplasia\Nail-patella syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Nail-patella syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Nail-patella syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of lower limb (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\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\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Structural abnormality of bone of limb (disorder)\Structure abnormality of bone of lower limb (disorder)\Structural abnormality of patella (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Structural abnormality of appendicular skeleton (disorder)\Structure abnormality of bone of lower limb (disorder)\Structural abnormality of patella (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Dysostosis\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Dysostosis\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Structural abnormality of bone of limb (disorder)\Structure abnormality of bone of lower limb (disorder)\Structural abnormality of patella (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Dysostosis\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of patella (disorder)\Structural abnormality of patella (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\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 patella (disorder)\Patella dysplasia\Nail-patella syndrome
\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\Dysostosis\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Structural abnormality of bone of limb (disorder)\Structure abnormality of bone of lower limb (disorder)\Structural abnormality of patella (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Disorder of soft tissue of limb\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Disorder of soft tissue of limb\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Structure abnormality of bone of lower limb (disorder)\Structural abnormality of patella (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Disorder of patella (disorder)\Structural abnormality of patella (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of lower limb (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Nail-patella syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Nail-patella syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Nail-patella syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Nail-patella syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Patella dysplasia\Nail-patella syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Nail-patella syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Nail-patella syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of lower limb (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Nail-patella syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of patella (disorder)\Patella dysplasia\Nail-patella syndrome
\Disease\Developmental disorder\Congenital malformation\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, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

37265017 Nail-patella syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
37266016 Hereditary osteo-onychodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
481255018 Nail patella syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
751579017 Nail-patella syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3788235010 Turner Kieser syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3788236011 Onychoosteodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5448820014 A rare hereditary patellar dysostosis characterized by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5448821013 A rare hereditary patellar dysostosis characterised by 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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nail-patella syndrome	Is a	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	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
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 (disorder)	false	Inferred relationship	Some
Nail-patella syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Nail-patella syndrome	Is a	Disorder of nail (disorder)	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	Patella dysplasia	true	Inferred relationship	Some
Nail-patella syndrome	Is a	Congenital anomaly of lower limb (disorder)	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	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 (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Nail-patella syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Nail-patella syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Nail-patella syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Nail-patella syndrome	Pathological process (attribute)	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 (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 (disorder)	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 (morphologic abnormality)	true	Inferred relationship	Some	2
Nail-patella syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
37265017	Nail-patella syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
37266016	Hereditary osteo-onychodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481255018	Nail patella syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
751579017	Nail-patella syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3788235010	Turner Kieser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3788236011	Onychoosteodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5448820014	A rare hereditary patellar dysostosis characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5448821013	A rare hereditary patellar dysostosis characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core