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111941005: Familial disease (disorder)

Status: current, Not 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
179087019 Familial disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
635166017 Familial disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3821000077113 maladie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

192 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial disease Is a Disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial hypodontia Is a True Familial disease Inferred relationship Some
Familial Alzheimer's disease of early onset Is a True Familial disease Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a True Familial disease Inferred relationship Some
Familial febrile urticaria Is a True Familial disease Inferred relationship Some
Familial duodenal ulcer associated with rapid gastric emptying Is a True Familial disease Inferred relationship Some
Maturity onset diabetes mellitus in young Is a False Familial disease Inferred relationship Some
Familial cardiomyopathy Is a True Familial disease Inferred relationship Some
Familial adrenocortical hypoplasia Is a True Familial disease Inferred relationship Some
Familial C3B inhibitor deficiency syndrome Is a True Familial disease Inferred relationship Some
Familial amyloid polyneuropathy Is a True Familial disease Inferred relationship Some
Hereditary motor neuron disease Is a False Familial disease Inferred relationship Some
Cherubism Is a False Familial disease Inferred relationship Some
Peutz-Jeghers syndrome Is a False Familial disease Inferred relationship Some
Familial neoplastic disease Is a True Familial disease Inferred relationship Some
Familial disease with storage of sterols (other than cholesterol) Is a True Familial disease Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Familial disease Inferred relationship Some
Familial hemorrhagic diathesis Is a True Familial disease Inferred relationship Some
Familial multiple polyposis syndrome Is a False Familial disease Inferred relationship Some
Familial renal iminoglycinuria Is a True Familial disease Inferred relationship Some
Normopepsinogenemic familial duodenal ulcer Is a True Familial disease Inferred relationship Some
Familial hypokalemic alkalosis, Gullner type Is a True Familial disease Inferred relationship Some
Familial hemiplegic migraine Is a True Familial disease Inferred relationship Some
Familial restrictive cardiomyopathy Is a False Familial disease Inferred relationship Some
Familial dysalbuminemic hyperthyroxinemia Is a True Familial disease Inferred relationship Some
Familial hypergastrinemic duodenal ulcer Is a True Familial disease Inferred relationship Some
Familial painful callosities (disorder) Is a True Familial disease Inferred relationship Some
convulsions néonatales familiales Is a False Familial disease Inferred relationship Some
Chronic familial neutropaenia Is a True Familial disease Inferred relationship Some
Familial idiopathic pulmonary fibrosis (disorder) Is a True Familial disease Inferred relationship Some
Familial hirsutism (disorder) Is a True Familial disease Inferred relationship Some
Familial febrile convulsions Is a True Familial disease Inferred relationship Some
Familial hyperalphalipoproteinemia Is a True Familial disease Inferred relationship Some
Familial non-obstructive reflux-associated chronic pyelonephritis Is a True Familial disease Inferred relationship Some
Congenital familial idiopathic priapism Is a True Familial disease Inferred relationship Some
A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance. Is a True Familial disease Inferred relationship Some
Familial abdominal aortic aneurysm (disorder) Is a True Familial disease Inferred relationship Some
Inherited atrial fibrillation that is not due to a structural abnormality or secondary cause. The condition usually occurs in people under 60 years of age. Is a True Familial disease Inferred relationship Some
A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications. Is a True Familial disease Inferred relationship Some
Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis. Is a True Familial disease Inferred relationship Some
Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. Is a True Familial disease Inferred relationship Some
A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. Is a False Familial disease Inferred relationship Some
A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association. Is a True Familial disease Inferred relationship Some
Haemolytic uraemic syndrome with either a family history of haemolytic uraemic syndrome or a genetic mutation known to cause haemolytic uraemic syndrome, or both. Is a True Familial disease Inferred relationship Some
Familial hyperthyroidism (disorder) Is a True Familial disease Inferred relationship Some
Familial Ménière disease (disorder) Is a True Familial disease Inferred relationship Some
Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. Is a True Familial disease Inferred relationship Some
Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. Is a True Familial disease 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 Familial disease Inferred relationship Some
Familial porphyria cutanea tarda Is a True Familial disease Inferred relationship Some
A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990. Is a True Familial disease Inferred relationship Some
Familial pericarditis Is a True Familial disease Inferred relationship Some
Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988. Is a True Familial disease Inferred relationship Some
Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions. Is a True Familial disease Inferred relationship Some
Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age. Is a True Familial disease Inferred relationship Some
Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. Is a True Familial disease Inferred relationship Some
Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. Is a True Familial disease Inferred relationship Some
Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging. Is a True Familial disease Inferred relationship Some
Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. Is a True Familial disease Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a True Familial disease Inferred relationship Some
Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. Is a True Familial disease Inferred relationship Some
Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. Is a True Familial disease Inferred relationship Some
synostose lambdoïde familiale Is a False Familial disease Inferred relationship Some
Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported. Is a True Familial disease Inferred relationship Some
Familial supernumerary nipple is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations have been reported. Is a True Familial disease Inferred relationship Some
Familial hemophagocytic lymphohistiocytosis (disorder) Is a True Familial disease Inferred relationship Some
Familial chronic mucocutaneous candidiasis Is a True Familial disease Inferred relationship Some
Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. Is a True Familial disease Inferred relationship Some
Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency. Is a True Familial disease Inferred relationship Some
A rare genetic neurological disorder characterized by dissection of the cervical artery in various members of a single family, presenting with variable manifestations which range from asymptomatic to the triad of ipsilateral pain in the head, neck, and face, Horner syndrome, and cerebral or retinal ischemic symptoms. Headache and cerebral ischemic features are most frequently observed. Is a True Familial disease Inferred relationship Some
Familial immunoglobulin A nephropathy (disorder) Is a True Familial disease Inferred relationship Some
A rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported. Is a True Familial disease Inferred relationship Some
A rare genetic peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated. Is a True Familial disease Inferred relationship Some
A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. Is a True Familial disease Inferred relationship Some
A rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. Is a True Familial disease Inferred relationship Some
A rare peripheral neuropathy characterized by an acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously, and it might be recurrent with no obvious precipitating factors. Is a True Familial disease Inferred relationship Some
A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis. Is a True Familial disease Inferred relationship Some
A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal. Is a True Familial disease Inferred relationship Some
A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities. Is a True Familial disease Inferred relationship Some
A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability. Is a True Familial disease Inferred relationship Some
A rare, genetic, familial partial epilepsy disease characterized by simple partial seizures, complex partial seizures and/or secondarily generalized seizures, originating from the inner aspect of the temporal lobe, associated with an antecedent history of febrile seizures, occurring in various members of a family. Hippocampal abnormalities (e.g. hippocampal sclerosis) may also be associated. Is a False Familial disease Inferred relationship Some
A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution. Is a False Familial disease Inferred relationship Some
An autosomal recessive subtype of primary pulmonary hypertension which has histological characteristics of widespread fibrous intimal proliferation of septal veins and preseptal venules. There is frequent association with pulmonary capillary dilatation and proliferation and the disease can cause occult alveolar haemorrhage. Is a True Familial disease Inferred relationship Some
Familial absence of villi Is a True Familial disease Inferred relationship Some
Heredofamilial systemic amyloidosis affecting skin (disorder) Is a True Familial disease Inferred relationship Some
Familial hematuria (disorder) Is a True Familial disease Inferred relationship Some
Isolated familial renal hypomagnesemia Is a True Familial disease Inferred relationship Some
Familial non-neuropathic amyloidosis Is a True Familial disease Inferred relationship Some
Familial hypospadias of penis (disorder) Is a True Familial disease Inferred relationship Some
A very rare genetic necrotic bone disorder with clinical characteristics of painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course. Is a True Familial disease Inferred relationship Some
Familial pigmented purpuric eruption Is a True Familial disease Inferred relationship Some
Familial fibrous mediastinitis Is a True Familial disease Inferred relationship Some
Familial gestational hyperthyroidism (disorder) Is a True Familial disease Inferred relationship Some
Haber's syndrome Is a True Familial disease Inferred relationship Some
Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. Is a True Familial disease Inferred relationship Some
Familial idiopathic hypercalciuria Is a True Familial disease Inferred relationship Some
Idiopathic familial dystonia Is a True Familial disease Inferred relationship Some
Familial paroxysmal rhabdomyolysis Is a True Familial disease Inferred relationship Some
Familial obesity Is a True Familial disease Inferred relationship Some
Glomerular disease due to familial disease Due to True Familial disease Inferred relationship Some 2
Familial dyshormonogenetic goitre Is a True Familial disease Inferred relationship Some
Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities. Is a True Familial disease Inferred relationship Some

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