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363137000: Hereditary disorder by system (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482274012 Hereditary disorder by system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
707611000077113 troubles héréditaires selon le système (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
754927014 Hereditary disorder by system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
84851000077118 troubles héréditaires selon le système fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


3605 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder by system est un(e) (attribut) maladie héréditaire true Inferred relationship Some
Hereditary disorder by system est un(e) (attribut) affection d'un système corporel true Inferred relationship Some
Hereditary disorder by system localisation d'une constatation (attribut) structure d'un système corporel true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Corticosteroid-binding globulin deficiency (disorder) est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency (disorder) est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Familial isolated hyperparathyroidism (disorder) est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Familial nonmedullary thyroid carcinoma est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
BSG syndrome est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Pseudohypoparathyroidism type 1C (disorder) est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Inherited mucociliary clearance defect est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Syndrome of apparent mineralocorticoid excess est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Emberger syndrome est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Kerasin thesaurismosis est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Interstitial lung disease due to surfactant protein C deficiency (disorder) est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Heme oxygenase-1 deficiency (disorder) est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Hepatic fructokinase deficiency (disorder) est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Connective tissue hereditary disorder est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Fructose-1,6-bisphosphate aldolase B deficiency (disorder) est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Pulmonary lipid storage disease est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
troubles héréditaires des éléments figurés du sang est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Pseudo von Willebrand disease est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Hereditary coagulation factor deficiency est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Hereditary factor IX deficiency disease (disorder) est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Familial hemorrhagic diathesis est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Hereditary hypoplasminogenemia est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Hereditary dysplasminogenemia est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Storage disease of the lung est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Inborn error of metabolism est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Auditory system hereditary disorder est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Cardiovascular system hereditary disorder est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Digestive system hereditary disorder est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of endocrine system (disorder) est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of hematologic system est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Hereditary disorder of immune system est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of the integument est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of lymphatic system (disorder) est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of musculoskeletal system est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of nervous system est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Reproductive system hereditary disorder est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of the urinary system est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of the visual system est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Familial cancer of breast est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Hand-foot-genital syndrome est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Nakajo-Nishimura syndrome est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Pulmonary interstitial glycogenosis est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Albinism co-occurrent with hematologic disorder (disorder) est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Familial spontaneous pneumothorax (disorder) est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Bilateral multiple fibroadenoma of breast (disorder) est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Autosomal recessive faciodigitogenital syndrome (disorder) est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Familial isolated congenital asplenia (disorder) est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
Splenomegaly co-occurrent and due to storage disease (disorder) est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Classical cystic fibrosis (disorder) est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Atypical cystic fibrosis (disorder) est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Subclinical cystic fibrosis est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Insulin resistance - type A est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Inherited acute myeloid leukemia (disorder) est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) est un(e) (attribut) False Hereditary disorder by system Inferred relationship Some
Familial juvenile hypertrophy of the breast est un(e) (attribut) True Hereditary disorder by system Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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