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719843001: Ulna fibula ray defect and brachydactyly 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
3318132016 Ulna fibula ray defect and brachydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318133014 Ulna fibula ray defect and brachydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318134015 Morava Mehes syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318135019 A very rare malformation syndrome with characteristics of hypoplasia of ulna associated with hypoplastic to absent fourth and/or fifth digits, hypoplasia of fibula, short stature and facial dysmorphism. 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
Ulna fibula ray defect and brachydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ulna fibula ray defect and brachydactyly syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 1
Ulna fibula ray defect and brachydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Ulna fibula ray defect and brachydactyly syndrome (disorder) localisation d'une constatation (attribut) fibula (structure corporelle) true Inferred relationship Some 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) localisation d'une constatation (attribut) Entire digit true Inferred relationship Some 1
Ulna fibula ray defect and brachydactyly syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2
Ulna fibula ray defect and brachydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Ulna fibula ray defect and brachydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Ulna fibula ray defect and brachydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ulna fibula ray defect and brachydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Ulna fibula ray defect and brachydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) localisation d'une constatation (attribut) ulna false Inferred relationship Some 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 4
Ulna fibula ray defect and brachydactyly syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) est un(e) (attribut) brachydactylie true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) est un(e) (attribut) Dysostosis true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) est un(e) (attribut) Congenital anomaly of ulna (disorder) true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) est un(e) (attribut) Congenital anomaly of fibula true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Ulna fibula ray defect and brachydactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Ulna fibula ray defect and brachydactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Ulna fibula ray defect and brachydactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Ulna fibula ray defect and brachydactyly syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Ulna fibula ray defect and brachydactyly syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 5
Ulna fibula ray defect and brachydactyly syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 7
Ulna fibula ray defect and brachydactyly syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Ulna fibula ray defect and brachydactyly syndrome (disorder) localisation d'une constatation (attribut) fibula (structure corporelle) false Inferred relationship Some 4
Ulna fibula ray defect and brachydactyly syndrome (disorder) morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 6
Ulna fibula ray defect and brachydactyly syndrome (disorder) localisation d'une constatation (attribut) Entire digit false Inferred relationship Some 6
Ulna fibula ray defect and brachydactyly syndrome (disorder) localisation d'une constatation (attribut) ulna false Inferred relationship Some 7
Ulna fibula ray defect and brachydactyly syndrome (disorder) localisation d'une constatation (attribut) ulna true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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