363137000: Hereditary disorder by system (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary disorder by system

\Disorder of body system\Hereditary disorder by system

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

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

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	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	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	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	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Pulmonary lipid storage disease	Is a	False	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
A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.	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	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 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
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.	Is a	False	Hereditary disorder by system	Inferred relationship	Some
A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterised by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.	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 (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 (AML) is a rare, malignant hematologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.	Is a	True	Hereditary disorder by system	Inferred relationship	Some
A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection.	Is a	False	Hereditary disorder by system	Inferred relationship	Some
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	Inferred relationship	Some
Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.	Is a	False	Hereditary disorder by system	Inferred relationship	Some
A rare, syndromic intellectual disability characterized by hypotonia, developmental delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse.	Is a	True	Hereditary disorder by system	Inferred relationship	Some
A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations.	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.	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
A rare form of pseudohyperaldosteronism characterised by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Emberger syndrome	Is a	True	Hereditary disorder by system	Inferred relationship	Some
A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.	Is a	True	Hereditary disorder by system	Inferred relationship	Some
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	Inferred relationship	Some
A rare, genetic interstitial lung disease characterised by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnoea, tachypnoea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis.	Is a	True	Hereditary disorder by system	Inferred relationship	Some
A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism, and hepatomegaly.	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Photoptarmosis	Is a	True	Hereditary disorder by system	Inferred relationship	Some
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Is a	True	Hereditary disorder by system	Inferred relationship	Some

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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
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