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720401009: syndrome de mucoviscidose-gastrite-anémie mégaloblastique (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
1017281000172114 syndrome de Lubani-Al Saleh-Teebi fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
755271000241118 syndrome de mucoviscidose-gastrite-anémie mégaloblastique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
936681000172112 syndrome de mucoviscidose-gastrite-anémie mégaloblastique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation 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) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) morphologie associée (attribut) Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 7
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) Gastrointestinal complication true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) Respiratory complication true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Due to carence en acide folique true Inferred relationship Some 3
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) anémie causée par une carence en acide folique true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) Cystic fibrosis true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) infection du tractus gastro-intestinal par Helicobacter pylori false Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) Hereditary red blood cell disorder (disorder) true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) Gastritis caused by Helicobacter pylori (disorder) true Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) localisation d'une constatation (attribut) Erythrocyte true Inferred relationship Some 5
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est défini par la manifestation de (attribut) Erythropenia false Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence false Inferred relationship Some 6
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) morphologie associée (attribut) inflammation 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) localisation d'une constatation (attribut) structure de l'estomac 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) a pour interprétation (attribut) au-dessous de l'étendue de référence false Inferred relationship Some 8
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) interprète (attribut) Red blood cell count false Inferred relationship Some 6
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) interprète (attribut) Measurement of total haemoglobin concentration false Inferred relationship Some 8
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) morphologie associée (attribut) Defect true Inferred relationship Some 1
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) localisation d'une constatation (attribut) structure des voies respiratoires true Inferred relationship Some 1
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) a pour interprétation (attribut) altéré true Inferred relationship Some 2
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) interprète (attribut) Mucociliary clearance true Inferred relationship Some 2
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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