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770681000: syndrome de séquence de Robin-oligodactylie (trouble)


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
1002311000172111 syndrome de séquence de Robin-oligodactylie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
769681000241110 syndrome de séquence de Robin-oligodactylie (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
871471000172113 syndrome de séquence de Pierre Robin, oligodactylie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
syndrome de séquence de Robin-oligodactylie Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome de séquence de Robin-oligodactylie morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
syndrome de séquence de Robin-oligodactylie Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
syndrome de séquence de Robin-oligodactylie morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 2
syndrome de séquence de Robin-oligodactylie survenue (attribut) congénital true Inferred relationship Some 1
syndrome de séquence de Robin-oligodactylie est un(e) (attribut) Robin sequence (disorder) true Inferred relationship Some
syndrome de séquence de Robin-oligodactylie est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
syndrome de séquence de Robin-oligodactylie localisation d'une constatation (attribut) face true Inferred relationship Some 1
syndrome de séquence de Robin-oligodactylie est un(e) (attribut) Adactyly true Inferred relationship Some
syndrome de séquence de Robin-oligodactylie survenue (attribut) congénital true Inferred relationship Some 2
syndrome de séquence de Robin-oligodactylie morphologie associée (attribut) Congenital absence false Inferred relationship Some 2
syndrome de séquence de Robin-oligodactylie localisation d'une constatation (attribut) Digit structure 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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