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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
754927014 Hereditary disorder by system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
482274012 Hereditary disorder by system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
482274012 Hereditary disorder by system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754927014 Hereditary disorder by system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Switzerland NRC maintained Module
84851000077118 troubles héréditaires selon le système fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3815 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder by system (disorder) Is a Hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder by system (disorder) Is a Disorder of body system true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder by system (disorder) Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Kerasin thesaurismosis Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary fructosuria Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of metabolism Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Auditory system hereditary disorder Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cardiovascular system hereditary disorder Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Digestive system hereditary disorder Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of haematologic sysem Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of immune system Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of the integument (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Herditary disorder of lymphatic system Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of musculoskeletal system Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of nervous system (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Reproductive system hereditary disorder (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of the urinary system Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of the visual system (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Essential benign fructosuria Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Connective tissue hereditary disorder Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pulmonary lipid storage disease Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of cellular element of blood Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudo von Willebrand disease Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary coagulation factor deficiency Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary factor IX deficiency disease (disorder) Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial hemorrhagic diathesis Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hypoplasminogenemia Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary dysplasminogenaemia Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Storage disease of the lung Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial cancer of breast (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hand-foot-genital syndrome Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autoinflammation, lipodystrophy and dermatosis syndrome (disorder) Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pulmonary interstitial glycogenosis Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Albinism co-occurrent with hematologic disorder (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial spontaneous pneumothorax (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral multiple fibroadenoma of breast Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset autosomal recessive sideroblastic anemia Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive faciodigitogenital syndrome (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial isolated congenital asplenia (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Splenomegaly co-occurrent and due to storage disease Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Classical cystic fibrosis Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Atypical cystic fibrosis (disorder) Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Subclinical cystic fibrosis Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Insulin resistance - type A Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Inherited acute myeloid leukemia (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Corticosteroid-binding globulin deficiency (disorder) Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumours in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumours and/or systemic manifestations. Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial nonmedullary primary thyroid carcinoma (disorder) Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Branchioskeletogenital syndrome (disorder) Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudohypoparathyroidism type 1C (disorder) Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Inherited mucociliary clearance defect Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Syndrome of apparent mineralocorticoid excess Is a False Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Emberger syndrome Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Interstitial lung disease due to surfactant protein C deficiency (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea. Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Heme oxygenase-1 deficiency (disorder) Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Photoptarmosis Is a True Hereditary disorder by system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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