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720401009: syndroom van cystische fibrose, gastritis en megaloblastaire anemie (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
3320635015 Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320636019 Cystic fibrosis with gastritis and megaloblastic anemia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322185018 Cystic fibrosis with gastritis and megaloblastic anaemia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322186017 Lubani Al-Saleh Teebi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6800351000146116 syndroom van cystische fibrose, gastritis en megaloblastaire anemie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6800361000146118 syndroom van cystische fibrose, gastritis en megaloblastaire anemie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6800371000146112 syndroom van Lubani-Al Saleh-Teebi nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3322194012 A rare genetic disease reported in two siblings of consanguineous Arab parents with characteristics of cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322195013 A rare genetic disease reported in two siblings of consanguineous Arab parents with characteristics of cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anaemia, and intellectual disability. There have been no further descriptions in the literature since 1991. 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
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Due to Folic acid deficiency true Inferred relationship Some 3
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a Megaloblastic anemia due to folate deficiency true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a mentale retardatie false Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a Cystic fibrosis true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a Helicobacter pylori gastrointestinal tract infection false Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a Hereditary red blood cell disorder (disorder) true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a Gastritis caused by Helicobacter pylori (disorder) true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Finding site Erythrocyte true Inferred relationship Some 5
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Has definitional manifestation erytropenie (bevinding) false Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Has interpretation Below reference range false Inferred relationship Some 6
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Associated morphology ontsteking (afwijkende morfologie) false Inferred relationship Some 7
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Causative agent Helicobacter pylori true Inferred relationship Some 7
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Finding site Stomach structure true Inferred relationship Some 7
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Pathological process (attribute) Infectious process (qualifier value) true Inferred relationship Some 7
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Has interpretation Below reference range false Inferred relationship Some 8
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Interprets Red blood cell count false Inferred relationship Some 6
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Interprets Measurement of total haemoglobin concentration false Inferred relationship Some 8
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Associated morphology defect false Inferred relationship Some 1
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Finding site Respiratory tract structure true Inferred relationship Some 1
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 2
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Interprets Mucociliary clearance true Inferred relationship Some 2
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 7
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a Gastrointestinal complication true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a Respiratory complication true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 6
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 6
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 8
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 8
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a Hematological disorder (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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