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363137000: Hereditary disorder by system (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482274012 Hereditary disorder by system en Synonym Active Case insensitive SNOMED CT core
754927014 Hereditary disorder by system (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3675 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
Corticosteroid-binding globulin deficiency Is a False Hereditary disorder by system Inferred relationship Some
AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome Is a True Hereditary disorder by system Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency Is a True Hereditary disorder by system Inferred relationship Some
Familial isolated hyperparathyroidism Is a False Hereditary disorder by system Inferred relationship Some
Familial nonmedullary thyroid carcinoma Is a False Hereditary disorder by system Inferred relationship Some
Branchioskeletogenital syndrome Is a False Hereditary disorder by system Inferred relationship Some
Pseudohypoparathyroidism type 1C 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
Kerasin thesaurismosis Is a False Hereditary disorder by system Inferred relationship Some
Interstitial lung disease due to surfactant protein C deficiency Is a True Hereditary disorder by system Inferred relationship Some
Interstitial lung disease due to ABCA3 deficiency Is a True Hereditary disorder by system Inferred relationship Some
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Is a True Hereditary disorder by system Inferred relationship Some
Heme oxygenase-1 deficiency Is a True Hereditary disorder by system Inferred relationship Some
Essential benign fructosuria Is a False Hereditary disorder by system Inferred relationship Some
Inherited disorder of connective tissue Is a False Hereditary disorder by system Inferred relationship Some
Hereditary fructose intolerance 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 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 haemorrhagic diathesis Is a False Hereditary disorder by system Inferred relationship Some
Hereditary hypoplasminogenaemia Is a False Hereditary disorder by system Inferred relationship Some
Hereditary dysplasminogenaemia 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
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 Is a True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of endocrine system Is a True Hereditary disorder by system Inferred relationship Some
Hereditary disorder of haematologic 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 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 Is a True 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 False Hereditary disorder by system Inferred relationship Some
Pulmonary interstitial glycogenosis Is a True Hereditary disorder by system Inferred relationship Some
Albinism co-occurrent with haematologic disorder Is a True Hereditary disorder by system Inferred relationship Some
Familial spontaneous pneumothorax Is a True Hereditary disorder by system Inferred relationship Some
Bilateral multiple fibroadenoma of breast Is a False Hereditary disorder by system Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anaemia Is a False Hereditary disorder by system Inferred relationship Some
Autosomal recessive faciodigitogenital syndrome Is a True Hereditary disorder by system Inferred relationship Some
Familial isolated congenital asplenia Is a True Hereditary disorder by system Inferred relationship Some
Splenomegaly co-occurrent and due to storage disease Is a False Hereditary disorder by system Inferred relationship Some
Classical cystic fibrosis Is a False Hereditary disorder by system Inferred relationship Some
Atypical cystic fibrosis 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 leukaemia Is a True Hereditary disorder by system Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome Is a False Hereditary disorder by system Inferred relationship Some
Familial juvenile hypertrophy of the breast Is a True Hereditary disorder by system Inferred relationship Some

Reference Sets

Clinical finding grouper exclusion reference set

Australian emergency department reference set

Australian dialect reference set

Description inactivation indicator reference set

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