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721882001: syndrome de synostose radio-ulnaire-thrombocytopénie amégacaryocytique (trouble)


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
3323085014 Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323086010 Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323087018 ATRUS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
757731000241119 syndrome de synostose radio-ulnaire-thrombocytopénie amégacaryocytique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
935171000172112 syndrome de synostose radio-ulnaire-thrombocytopénie amégacaryocytique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
973251000172111 syndrome ATRUS (radio-ulnar synostosis, amegakaryocytic thrombocytopenia) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3323088011 Syndrome with the association of proximal fusion of the radius and ulna and congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). 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
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) localisation d'une constatation (attribut) Structure of bone of forearm (body structure) false Inferred relationship Some 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) interprète (attribut) Hemostatic function (observable entity) false Inferred relationship Some 2
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) est un(e) (attribut) constatation fonctionnelle false Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) a pour interprétation (attribut) anormal false Inferred relationship Some 2
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 2
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) interprète (attribut) Hemostatic function (observable entity) true Inferred relationship Some 2
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) localisation d'une constatation (attribut) radius (structure corporelle) true Inferred relationship Some 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 3
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) localisation d'une constatation (attribut) ulna true Inferred relationship Some 3
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) est un(e) (attribut) Radioulnar synostosis true Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) est un(e) (attribut) anomalie plaquettaire héréditaire true Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) est un(e) (attribut) thrombocytopénie amégacaryocytique avec malformation congénitale true Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) est défini par la manifestation de (attribut) Platelet count below reference range (finding) false Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 4
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) interprète (attribut) Platelet count true Inferred relationship Some 4
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 5
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) localisation d'une constatation (attribut) Structure of bone of forearm (body structure) false Inferred relationship Some 5
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) est un(e) (attribut) Platelet count below reference range (finding) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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