FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

716336002: Congenital amegakaryocytic thrombocytopenia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3305550013 Congenital amegakaryocytic thrombocytopenia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305551012 Congenital amegakaryocytic thrombocytopenia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401305019 An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401306018 An isolated constitutional thrombocytopenia characterised by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305550013 Congenital amegakaryocytic thrombocytopenia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305550013 Congenital amegakaryocytic thrombocytopenia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305551012 Congenital amegakaryocytic thrombocytopenia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305551012 Congenital amegakaryocytic thrombocytopenia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305552017 A rare inherited bone marrow failure syndrome with manifestation of an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401305019 An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401306018 An isolated constitutional thrombocytopenia characterised by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3443401001000116 Angeborene amegakaryozytäre Thrombozytopenie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909321000172118 thrombocytopénie amégacaryocytaire congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
991501000172119 CAMT - congenital amegakaryocytic thrombocytopenia fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909321000172118 thrombocytopénie amégacaryocytaire congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
991501000172119 CAMT - congenital amegakaryocytic thrombocytopenia fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443401001000116 Angeborene amegakaryozytäre Thrombozytopenie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital amegakaryocytic thrombocytopenia (disorder) Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital amegakaryocytic thrombocytopenia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital amegakaryocytic thrombocytopenia (disorder) Is a Amegakaryocytic thrombocytopenia true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital amegakaryocytic thrombocytopenia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital amegakaryocytic thrombocytopenia (disorder) Has definitional manifestation Platelet count below reference range (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital amegakaryocytic thrombocytopenia (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital amegakaryocytic thrombocytopenia (disorder) Interprets Platelet count true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital amegakaryocytic thrombocytopenia (disorder) Is a Congenital thrombocytopaenia true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital amegakaryocytic thrombocytopenia (disorder) Interprets Hemostatic function false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital amegakaryocytic thrombocytopenia (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital amegakaryocytic thrombocytopenia (disorder) Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start