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22199006: Nail-patella syndrome (disorder)


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 Reference Sets
37265017 Nail-patella syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
37266016 Hereditary osteo-onychodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
481255018 Nail patella syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
751579017 Nail-patella syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3788235010 Turner Kieser syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3788236011 Onychoosteodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1327271000005117 Negl-patella-syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

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 Neglestruktur 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 multisystemsygdom 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 kongenit dysplasi 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 kongenit dysplasi 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 kongenit dysplasi false Inferred relationship Some 2
Nail-patella syndrome Associated morphology kongenit dysplasi 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 (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

Danish translated concepts reference set (foundation metadata concept)

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