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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 Reference Sets
482274012 Hereditary disorder by system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
754927014 Hereditary disorder by system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

3251 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder by system Is a Hereditary disease true Inferred relationship Some
Hereditary disorder by system Is a Disorder of body system true Inferred relationship Some
Hereditary disorder by system Finding site Body system structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Kerasin thesaurismosis (disorder) Is a False Hereditary disorder by system Inferred relationship Some
Hereditary fructosuria Is a False Hereditary disorder by system Inferred relationship Some
Inborn error of metabolism Is a False Hereditary disorder by system Inferred relationship Some
Auditory system hereditary disorder Is a True Hereditary disorder by system Inferred relationship Some
Cardiovascular system hereditary disorder Is a True Hereditary disorder by system Inferred relationship Some
Digestive system hereditary disorder (disorder) Is a True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of endocrine system (disorder) Is a True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of hematologic system Is a False Hereditary disorder by system Inferred relationship Some
Hereditary disorder of immune system Is a True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of the integument Is a True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of lymphatic system (disorder) Is a True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of musculoskeletal system Is a True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of nervous system Is a True Hereditary disorder by system Inferred relationship Some
Reproductive system hereditary disorder Is a True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of the urinary system Is a True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of the visual system (disorder) Is a True Hereditary disorder by system Inferred relationship Some
Essential benign fructosuria Is a False Hereditary disorder by system Inferred relationship Some
Connective tissue hereditary disorder (disorder) Is a False Hereditary disorder by system Inferred relationship Some
Pulmonary lipid storage disease Is a True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of cellular element of blood (disorder) Is a True Hereditary disorder by system Inferred relationship Some
Pseudo von Willebrand disease Is a False Hereditary disorder by system Inferred relationship Some
Hereditary coagulation factor deficiency Is a False Hereditary disorder by system Inferred relationship Some
Hereditary factor IX deficiency disease Is a False Hereditary disorder by system Inferred relationship Some
Familial hemorrhagic diathesis Is a False Hereditary disorder by system Inferred relationship Some
Hereditary hypoplasminogenemia Is a False Hereditary disorder by system Inferred relationship Some
Hereditary dysplasminogenemia Is a False Hereditary disorder by system Inferred relationship Some
Storage disease of the lung Is a False Hereditary disorder by system Inferred relationship Some
Familial cancer of breast Is a True Hereditary disorder by system Inferred relationship Some
Hand-foot-genital syndrome Is a True Hereditary disorder by system Inferred relationship Some
Nakajo-Nishimura syndrome Is a True Hereditary disorder by system Inferred relationship Some
Pulmonary interstitial glycogenosis Is a True Hereditary disorder by system Inferred relationship Some
Albinism co-occurrent with hematologic disorder (disorder) Is a True Hereditary disorder by system Inferred relationship Some
Familial spontaneous pneumothorax (disorder) Is a True Hereditary disorder by system Inferred relationship Some
Bilateral multiple fibroadenoma of breast (disorder) Is a False Hereditary disorder by system Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) Is a False Hereditary disorder by system Inferred relationship Some
Autosomal recessive faciodigitogenital syndrome (disorder) Is a True Hereditary disorder by system Inferred relationship Some
Familial isolated congenital asplenia (disorder) Is a True Hereditary disorder by system Inferred relationship Some
Splenomegaly co-occurrent and due to storage disease (disorder) Is a True Hereditary disorder by system Inferred relationship Some
Classical cystic fibrosis (disorder) Is a False Hereditary disorder by system Inferred relationship Some
Atypical cystic fibrosis (disorder) Is a False Hereditary disorder by system Inferred relationship Some
Subclinical cystic fibrosis Is a False Hereditary disorder by system Inferred relationship Some
Insulin resistance - type A Is a False Hereditary disorder by system Inferred relationship Some
Inherited acute myeloid leukemia (disorder) Is a True Hereditary disorder by system Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a True Hereditary disorder by system Inferred relationship Some
Familial juvenile hypertrophy of the breast Is a True Hereditary disorder by system Inferred relationship Some
Corticosteroid-binding globulin deficiency (disorder) Is a False Hereditary disorder by system Inferred relationship Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Is a True Hereditary disorder by system Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Is a True Hereditary disorder by system Inferred relationship Some
Familial isolated hyperparathyroidism (disorder) Is a False Hereditary disorder by system Inferred relationship Some
Familial nonmedullary thyroid carcinoma Is a False Hereditary disorder by system Inferred relationship Some
BSG syndrome Is a False Hereditary disorder by system Inferred relationship Some
Pseudohypoparathyroidism type 1C (disorder) Is a False Hereditary disorder by system Inferred relationship Some
Inherited mucociliary clearance defect Is a True Hereditary disorder by system Inferred relationship Some
Syndrome of apparent mineralocorticoid excess Is a False Hereditary disorder by system Inferred relationship Some
Emberger syndrome Is a True Hereditary disorder by system Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

GB English

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