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717785002: Coloboma of macula with brachydactyly type B 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
3323594014 Coloboma of macula with brachydactyly type B syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323595010 Coloboma of macula with brachydactyly type B syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323596011 Sorsby syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323597019 A malformation syndrome with the combination of bilateral coloboma of macula, horizontal pendular nystagmus, severe visual loss and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails, broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Inherited in a dominant manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
878471000172115 syndrome de colobome maculaire-brachydactylie type B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
1006071000172116 syndrome de Sorsby fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
883541000172114 coloboom van macula, brachydactylie type B nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
935591000172116 syndroom van Sorsbys nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Coloboma of macula with brachydactyly type B syndrome (disorder) Is a Congenital anomaly of macula false Inferred relationship Some
Coloboma of macula with brachydactyly type B syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Coloboma of macula with brachydactyly type B syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Coloboma of macula with brachydactyly type B syndrome (disorder) Is a Congenital ocular coloboma (disorder) false Inferred relationship Some
Coloboma of macula with brachydactyly type B syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Coloboma of macula with brachydactyly type B syndrome (disorder) Is a Brachydactyly syndrome type B (disorder) true Inferred relationship Some
Coloboma of macula with brachydactyly type B syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 3
Coloboma of macula with brachydactyly type B syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Coloboma of macula with brachydactyly type B syndrome (disorder) Finding site Entire digit true Inferred relationship Some 3
Coloboma of macula with brachydactyly type B syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Some 4
Coloboma of macula with brachydactyly type B syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Coloboma of macula with brachydactyly type B syndrome (disorder) Finding site Macula lutea structure false Inferred relationship Some 4
Coloboma of macula with brachydactyly type B syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Coloboma of macula with brachydactyly type B syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 5
Coloboma of macula with brachydactyly type B syndrome (disorder) Finding site Entire digit false Inferred relationship Some 5
Coloboma of macula with brachydactyly type B syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Coloboma of macula with brachydactyly type B syndrome (disorder) Finding site Bone structure false Inferred relationship Some 3
Coloboma of macula with brachydactyly type B syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
Coloboma of macula with brachydactyly type B syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Coloboma of macula with brachydactyly type B syndrome (disorder) Finding site Macula lutea structure false Inferred relationship Some 1
Coloboma of macula with brachydactyly type B syndrome (disorder) Is a Congenital coloboma of macula lutea true Inferred relationship Some
Coloboma of macula with brachydactyly type B syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Coloboma of macula with brachydactyly type B syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Coloboma of macula with brachydactyly type B syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Coloboma of macula with brachydactyly type B syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Coloboma of macula with brachydactyly type B syndrome (disorder) Finding site Bone structure true Inferred relationship Some 1
Coloboma of macula with brachydactyly type B syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Coloboma of macula with brachydactyly type B syndrome (disorder) Finding site Macula lutea structure true Inferred relationship Some 2
Coloboma of macula with brachydactyly type B syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Coloboma of macula with brachydactyly type B syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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