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721882001: syndroom van radio-ulnaire synostose en amegakaryocytaire trombocytopenie (aandoening)


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
6372391000146118 ATRUS-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7003061000146114 syndroom van radio-ulnaire synostose en amegakaryocytaire trombocytopenie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7003071000146115 syndroom van radio-ulnaire synostose en amegakaryocytaire trombocytopenie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Is a Radioulnar synostosis false Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Is a Inherited platelet disorder true Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Is a Amegakaryocytic thrombocytopenia with congenital malformation true Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Has definitional manifestation Platelet count below reference range (finding) false Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 4
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Interprets Platelet count true Inferred relationship Some 4
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Associated morphology congenitale afwijkende fusie false Inferred relationship Some 5
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Finding site Structure of bone of forearm (body structure) false Inferred relationship Some 5
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Is a Platelet count below reference range (finding) false Inferred relationship Some
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) Associated morphology congenitale afwijkende fusie false Inferred relationship Some 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Finding site Structure of bone of forearm (body structure) false Inferred relationship Some 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Interprets Hemostatic function false Inferred relationship Some 2
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Is a Functional finding false Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Has interpretation Abnormal false Inferred relationship Some 2
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 2
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Interprets Hemostatic function true Inferred relationship Some 2
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Finding site Bone structure of radius (body structure) false Inferred relationship Some 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Associated morphology congenitale afwijkende fusie false Inferred relationship Some 3
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Finding site Bone structure of ulna false 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) Occurrence Congenital true Inferred relationship Some 3
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Is a Congenital radioulnar synostosis true Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Finding site Bone structure of ulna true Inferred relationship Some 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Finding site Bone structure of radius (body structure) true Inferred relationship Some 3
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 3
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Is a congenitale trombocytopenie false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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