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721017000: Postaxial polydactyly and intellectual disability syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5402571011 Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402572016 Oliver syndrome is a very rare syndrome characterised by intellectual deficit, postaxial polydactyly, and epilepsy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323060017 Postaxial polydactyly and intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323061018 Postaxial polydactyly and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323062013 Oliver syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5481561000241113 syndrome de polydactylie postaxiale et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412091001000116 Oliver-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
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Is a retard mental false Inferred relationship Some
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Is a Dysostosis true Inferred relationship Some
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Is a Connective tissue hereditary disorder false Inferred relationship Some
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Is a Polydactyly true Inferred relationship Some
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Associated morphology Congenital dysplasia false Inferred relationship Some 2
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Occurrence Congenital true Inferred relationship Some 2
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Finding site Bone structure true Inferred relationship Some 2
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Associated morphology Supernumerary structure false Inferred relationship Some 3
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Occurrence Congenital false Inferred relationship Some 3
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Finding site Digit structure false Inferred relationship Some 3
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Is a Intellectual disability false Inferred relationship Some
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Occurrence Congenital true Inferred relationship Some 1
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Finding site Digit structure true Inferred relationship Some 1
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Associated morphology Supernumerary structure true Inferred relationship Some 1
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Associated morphology Dysplasia true Inferred relationship Some 2
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Is a Developmental hereditary disorder true Inferred relationship Some
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Interprets Intellectual ability true Inferred relationship Some 3
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Has interpretation Impaired true Inferred relationship Some 3
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Has interpretation Impaired true Inferred relationship Some 4
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Is a Genetic intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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