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770681000: Robin sequence and oligodactyly syndrome (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
3702093019 Robin sequence and oligodactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702094013 Robin sequence and oligodactyly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702095014 Pierre Robin sequence, oligodactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702096010 A rare genetic developmental defect during embryogenesis syndrome with characteristics of Robin sequence (severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Robin sequence and oligodactyly syndrome Occurrence Congenital true Inferred relationship Some 1
Robin sequence and oligodactyly syndrome Is a Robin sequence true Inferred relationship Some
Robin sequence and oligodactyly syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Robin sequence and oligodactyly syndrome Finding site Face structure true Inferred relationship Some 1
Robin sequence and oligodactyly syndrome Is a Adactyly true Inferred relationship Some
Robin sequence and oligodactyly syndrome Occurrence Congenital true Inferred relationship Some 2
Robin sequence and oligodactyly syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
Robin sequence and oligodactyly syndrome Finding site Digit structure true Inferred relationship Some 2
Robin sequence and oligodactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Robin sequence and oligodactyly syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Robin sequence and oligodactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Robin sequence and oligodactyly syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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