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770946000: Postaxial tetramelic oligodactyly (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3703560010 Postaxial tetramelic oligodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3703561014 Postaxial tetramelic oligodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404978014 Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404979018 Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterised by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3703560010 Postaxial tetramelic oligodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3703561014 Postaxial tetramelic oligodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3703562019 A rare genetic congenital limb malformation disorder with characteristics of isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404978014 Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404979018 Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterised by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3417331001000115 Oligodaktylie, tetramelische postaxiale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
916691000172116 oligodactylie postaxiale tétramélique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
916691000172116 oligodactylie postaxiale tétramélique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3417331001000115 Oligodaktylie, tetramelische postaxiale 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
Postaxial tetramelic oligodactyly Is a Congenital anomaly of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial tetramelic oligodactyly Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial tetramelic oligodactyly Is a Dysostosis true Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial tetramelic oligodactyly Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Postaxial tetramelic oligodactyly Is a Congenital absence of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial tetramelic oligodactyly Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial tetramelic oligodactyly Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Postaxial tetramelic oligodactyly Finding site Bone structure of extremity true Inferred relationship Existential restriction modifier (core metadata concept) 2
Postaxial tetramelic oligodactyly Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Postaxial tetramelic oligodactyly Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Postaxial tetramelic oligodactyly Finding site Entire bone of extremity (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Postaxial tetramelic oligodactyly Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Postaxial tetramelic oligodactyly Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Postaxial tetramelic oligodactyly Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Postaxial tetramelic oligodactyly Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial tetramelic oligodactyly Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Postaxial tetramelic oligodactyly Is a Congenital dysplasia of limb (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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