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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
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 Active Entire term case sensitive (core metadata concept) SNOMED CT core
37265017 Nail-patella syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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 Active Entire term case sensitive (core metadata concept) SNOMED CT core
3421011001000110 Nagel-Patella-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
66271000077117 onycho-ostéodysplasie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873481000172110 syndrome nail-patella fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
927901000172113 onycho-ostéodysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
66271000077117 onycho-ostéodysplasie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873481000172110 syndrome nail-patella fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
927901000172113 onycho-ostéodysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3421011001000110 Nagel-Patella-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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