900000000000509007: United States of America English language reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Language type reference set (foundation metadata concept)\English [International Organization for Standardization 639-1 code en] language reference set (foundation metadata concept)\US English

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT model component module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
US English	Is a	English [International Organization for Standardization 639-1 code en] language reference set (foundation metadata concept)	true	Inferred relationship	Some

Members	acceptabilityId
A type of classical xanthinuria, this disease is a rare autosomal recessive disorder of purine metabolism with characteristics of isolated deficiency of xanthine dehydrogenase, leading to urolithiasis, hematuria, renal colic and urinary tract infections. Some patients are asymptomatic, others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.	Preferred (foundation metadata concept)
A type of epilepsy associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.	Preferred (foundation metadata concept)
A type of epilepsy characterized by frequent epileptiform activity associated with developmental slowing and often regression on the background of previously normal development. In this type of epilepsy the frequent seizures and/or epileptiform discharges, rather than underlying etiology is thought to be the only cause of developmental impairment.	Preferred (foundation metadata concept)
A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background.	Preferred (foundation metadata concept)
A type of epilepsy that presents with daily typical absence seizures usually between 4 to 10 years of age in an otherwise normal child. Absence seizures are brief but may occur in clusters and are provoked by hyperventilation. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 2.5 to 4 Hz generalized spike-wave and a normal background.	Preferred (foundation metadata concept)
A type of epilepsy that presents with generalized tonic-clonic seizures usually between 10 and 25 years of age in an otherwise normal adolescent or adult. The generalized tonic-clonic seizures are typically provoked by sleep deprivation. Other seizure types do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram must show generalized epileptiform discharges or capture a generalized tonic-clonic seizure and have a normal background.	Preferred (foundation metadata concept)
A type of epilepsy that presents with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalized epileptiform discharges or myoclonic epileptic seizures and have a normal background.	Preferred (foundation metadata concept)
A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and a normal background.	Preferred (foundation metadata concept)
A type of epilepsy that presents with myoclonic-atonic seizures usually between 2 to 6 years of age. Other generalized seizure types which may be seen in this syndrome include atonic, myoclonic, generalized tonic-clonic seizures, tonic and absence seizures. Nonconvulsive status epilepticus is common. Development prior to seizure onset is normal in two thirds of cases. These children typically show developmental stagnation or even regression during the active seizures (stormy) phase, which improves once seizures are controlled. The electroencephalogram shows generalized 2 to 6 Hz spike-wave or polyspike-and-wave abnormalities, with normal background.	Preferred (foundation metadata concept)
A type of epilepsy that presents with typical absence seizures between 9 and 13 years of age in an otherwise normal adolescent. The typical absence seizures usually occur less than daily in the untreated state and are provoked by hyperventilation in 87 percent of cases. Generalized tonic-clonic seizures are seen in greater than 90 percent of cases, most commonly beginning shortly after onset of absence seizures. Myoclonic seizures do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave with a normal background.	Preferred (foundation metadata concept)
A type of epilepsy with both generalized and focal onset epileptic seizures.	Preferred (foundation metadata concept)
A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.	Preferred (foundation metadata concept)
A type of epilepsy with only generalized onset epileptic seizures.	Preferred (foundation metadata concept)
A type of esophoria where the inward deviation is consistent in all directions of gaze.	Preferred (foundation metadata concept)
A type of esophoria where the inward deviation varies depending on the direction of gaze.	Preferred (foundation metadata concept)
A type of exophoria where the outward deviation is consistent in all directions of gaze.	Preferred (foundation metadata concept)
A type of exophoria where the outward deviation varies depending on the direction of gaze.	Preferred (foundation metadata concept)
A type of familial frontal lobe epilepsy where individuals present with clusters of motor seizures occurring from sleep, with usual onset in the first two decades of life, typically in adolescence (eleven to fourteen years). Focal motor seizures have hyperkinetic features or asymmetric tonic/dystonic features, usually with autonomic signs, vocalization, and negative emotional expression such as fear. Seizures are brief, with abrupt onset/offset, and there is often preserved awareness during the seizure. Individuals may describe a focal aware sensory or cognitive seizure before the motor features commence. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background is typically normal. The awake EEG is non epileptiform in most patients. During sleep, interictal epileptiform abnormalities are seen over the frontal areas in approximately 50% of patients. Neuroimaging is usually normal. There is a family history of sleep-related hypermotor epilepsy.	Preferred (foundation metadata concept)
A type of familial infantile gigantism caused by microduplication of Xq26.3. Onset usually occurs in the first year of life in previously normal infants. Patients present with gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. May present as a sporadic condition or as familial isolated pituitary adenomas.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the amygdalo-hippocampal area of the temporal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the anterior frontopolar area of the frontal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the cingulate area of the frontal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the dorsolateral area of the frontal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the frontal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the insular cortex.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the lateral area of the temporal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the mesial area of the temporal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the mesiobasal limbic area of the temporal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the occipital lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the opercular area of the frontal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the orbitofrontal area of the frontal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the parietal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the primary motor cortex area of the frontal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the supplementary motor cortex area of the frontal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the temporal lobe.	Preferred (foundation metadata concept)
A type of frontal lobe epilepsy that presents with clusters of motor seizures occurring from sleep, with usual onset in the first two decades of life, typically in adolescence (eleven to fourteen years). Focal motor seizures have hyperkinetic features or asymmetric tonic/dystonic features, usually with autonomic signs, vocalization, and negative emotional expression such as fear. Seizures are brief, with abrupt onset/offset, and there is often preserved awareness during the seizure. Individuals may describe a focal aware sensory or cognitive seizure before the motor features commence. Focal to bilateral tonic-clonic seizures can occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background is typically normal. The awake EEG is non epileptiform in most patients. During sleep, interictal epileptiform abnormalities can be seen over the frontal areas. Neuroimaging is usually normal.	Preferred (foundation metadata concept)
A type of immune mediated hypersensitivity process that represents the underlying mechanism of allergic conditions.	Preferred (foundation metadata concept)
A type of intensity modulated radiation therapy technique where the radiotherapy machine rotates around the patient, radiating the target in a complete three dimensional manner with variable speed and/or dose rate.	Preferred (foundation metadata concept)
A type of nemaline myopathy (NM) only observed in several families of the Amish community.	Preferred (foundation metadata concept)
A type of non-immune hypersensitivity process that represents the underlying mechanism of pseudoallergic conditions.	Preferred (foundation metadata concept)
A type of oculocutaneous albinism with characteristics of mild hypopigmentation of the skin, hair, and eyes with moderate reduction of visual acuity and nystagmus. The ocular phenotype includes moderate foveal hypoplasia, iris transillumination and hypopigmentation of the retina.	Preferred (foundation metadata concept)
A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.	Preferred (foundation metadata concept)
A type of primary hyperaldosteronism resulting from a benign neoplasm of the adrenal gland. The adrenal neoplasm increases production of aldosterone. Excess aldosterone causes the kidneys to retain more salt than usual resulting in increases in body fluid levels and blood pressure. The disease is caused by mutations in one of several genes. The most commonly mutated gene is KCNJ5, accounting for an estimated 40 percent of the neoplasms, followed by the CACNA1D and ATP1A1 genes. Changes in other genes cause a small percentage of cases with additional unidentified genes involved in the condition. The disease is generally not inherited but may arise from a mutation occurring after conception.	Preferred (foundation metadata concept)
A type of progressive familial intrahepatic cholestasis, this disease is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Onset occurs in the neonatal period. Clinical signs of cholestasis usually appear in the first months of life with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Patients usually develop fibrosis and end-stage liver disease before adulthood. PFIC2 is due to mutations in the ABCB11 gene (2q24) encoding the bile salt export pump (BSEP) protein resulting in impaired biliary bile acid secretion which leads to decreased bile flow and bile salt accumulation in hepatocytes with ongoing severe hepatocellular damage.	Preferred (foundation metadata concept)
A type of pseudohypoparathyroidism with characteristics of localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs).	Preferred (foundation metadata concept)
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesized that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism.	Preferred (foundation metadata concept)
A type of reference set that allocates an order to a set of SNOMED CT associations.	Preferred (foundation metadata concept)
A type of reference set that allocates an order to a set of SNOMED CT components.	Preferred (foundation metadata concept)
A type of resorption which is self-limiting and usually occurs following trauma. The disorder manifests as small superficial lacunae in the cementum and may extend in the outermost layer of dentin.	Preferred (foundation metadata concept)
A type of self-limited focal epilepsy with onset of focal seizures in infancy (peak age six months; range three to twenty months). Focal seizure semiology includes behavioral arrest, cyanosis, staring with impaired awareness, automatisms, head/eye version and clonic movements. Individual focal clonic seizures originating from either hemisphere may occur in the same child and can progress to become focal to bilateral tonic-clonic seizures. Seizures are usually brief (less than three minutes). Seizures are often frequent (five to ten per day over one to three days) and may be difficult to control at onset. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal but can have focal background slowing postictally. The interictal EEG is normal but can have midline spikes during slow sleep. MRI is normal or has nonspecific findings. Pathogenic variants in the PRRT2 gene are most commonly identified. Pathogenic variants in SCN2A, KCNQ2, KCNQ3 and SCN8A genes are causative in some individuals.	Preferred (foundation metadata concept)
A type of self-limited focal epilepsy with onset typically between day two and seven of life. Seizures are focal tonic at onset, affecting the head, face, and limbs. Focal clonic or tonic seizures may evolve to bilateral tonic or clonic seizures. Onset may alternate between hemispheres. Autonomic features (apnea and cyanosis) are present in one third of seizures and may be the predominant manifestation. Seizure semiology may progress in a sequential pattern with tonic, clonic, myoclonic and autonomic features following each other without a single predominant feature. Clusters of seizures may occur over hours or days with the neonate behaving normally between events. Developmental progress is usually normal. The electroencephalogram (EEG) background is normal or has minor nonspecific abnormalities. Focal interictal epileptiform abnormalities can be seen in the central, centrotemporal or frontotemporal regions. MRI is normal or has nonspecific findings. Pathogenic variants are seen in KCNQ2, KCNQ3 and SCN2A.	Preferred (foundation metadata concept)
A type of solid dose form intended to dissolve or disintegrate slowly in the mouth while being sucked.	Preferred (foundation metadata concept)
A type of solid dose form prepared by compression intended to dissolve or disintegrate slowly in the mouth while being sucked.	Preferred (foundation metadata concept)
A type of solid dose form prepared by molding and intended to dissolve or disintegrate slowly in the mouth while being sucked.	Preferred (foundation metadata concept)
A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumor) that merges with the lower level of the spinal cord.	Preferred (foundation metadata concept)
A type of superficial inflammatory dermatitis occurring where two skin surfaces are in apposition. Intertrigo occurs in the skin fold and results from friction, heat, moisture and may lead to skin infection.	Preferred (foundation metadata concept)
A type of supernumerary tooth which has the morphology of a normal fully formed tooth.	Preferred (foundation metadata concept)
A type of temporal lobe epilepsy that presents typically between 10 and 30 years (range 0.5 to 54 years) with focal aware sensory auditory seizures and/or focal cognitive seizures with receptive aphasia. Auditory seizures typically consist of simple unformed sounds (e.g., humming, buzzing, or ringing), or less commonly auditory distortions (such as alteration in volume) or complex sounds (e.g., specific songs or voices). Cognitive seizures manifest as receptive aphasia, consisting of an inability to understand spoken language in the absence of an impairment of awareness. Focal impaired awareness and focal to bilateral tonic-clonic seizures may occur. Development and cognition are typically normal. Neurological examination is normal. The interictal EEG is normal but may have focal (usually temporal) sharp-and-wave or spikes, that can also be widespread. MRI is normal or shows focal cortical dysplasia.	Preferred (foundation metadata concept)
A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.	Preferred (foundation metadata concept)
A uniparental disomy of maternal origin which may be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described and specific phenotype depends on the inherited disorder.	Preferred (foundation metadata concept)
A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.	Preferred (foundation metadata concept)
A unit/mL	Preferred (foundation metadata concept)
A urethral route that begins through the urethra.	Preferred (foundation metadata concept)
A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.	Preferred (foundation metadata concept)
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.	Preferred (foundation metadata concept)
A vegetarian diet that excludes all animal-based foods and animal-based food and ingredients.	Preferred (foundation metadata concept)
A vegetarian diet that includes egg and excludes other animal-based food and ingredients.	Preferred (foundation metadata concept)
A vegetarian diet that includes fish and seafood, egg, and mammalian milk-based food and excludes all other animal-based protein food and ingredients.	Preferred (foundation metadata concept)
A vein located in the antecubital fossa	Preferred (foundation metadata concept)
A venous and lymphatic drainage technique applied through the lower extremities.	Preferred (foundation metadata concept)
A vertical line passing through the lateral malleolus, used as a point of reference in standing lateral x-rays and postural evaluation.	Preferred (foundation metadata concept)
A vertical line used as a reference in standing antero-posterior x-rays and postural evaluation, passing equidistant between the heels.	Preferred (foundation metadata concept)
A vertical misalignment in which one eye tends to move downward, only noticeable when binocular vision is disrupted, such as when one eye is covered. The misalignment varies depending on the direction of gaze.	Preferred (foundation metadata concept)
A vertical misalignment in which one eye tends to move upward, only noticeable when binocular vision is disrupted, such as when one eye is covered. The misalignment is the same in all directions of gaze.	Preferred (foundation metadata concept)
A vertical misalignment in which one eye tends to move upward, only noticeable when binocular vision is disrupted, such as when one eye is covered. The misalignment varies depending on the direction of gaze.	Preferred (foundation metadata concept)
A vertical misalignment where one eye tends to move downward, only noticeable when binocular vision is disrupted such as when one eye is covered.	Preferred (foundation metadata concept)
A vertical misalignment where one eye tends to move downward, only noticeable when binocular vision is disrupted such as when one eye is covered. The misalignment is the same in all directions of gaze.	Preferred (foundation metadata concept)
A vertical misalignment where one eye tends to move upward, only noticeable when binocular vision is disrupted such as when one eye is covered.	Preferred (foundation metadata concept)
A vertical plane at right angles to a sagittal plane, dividing the body into anterior and posterior portions, or any plane parallel to the central coronal plane.	Preferred (foundation metadata concept)
A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.	Preferred (foundation metadata concept)
A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.	Preferred (foundation metadata concept)
A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	Preferred (foundation metadata concept)
A very rare aggressive form of systemic mastocytosis characterized by abnormal growth and proliferation of neoplastic mast cells (>20%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (for example hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia and hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported.	Preferred (foundation metadata concept)
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Preferred (foundation metadata concept)
A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly.	Preferred (foundation metadata concept)
A very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations including dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties). When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.	Preferred (foundation metadata concept)
A very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. More commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period.	Preferred (foundation metadata concept)
A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.	Preferred (foundation metadata concept)
A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.	Preferred (foundation metadata concept)
A very rare association of a Poland anomaly with characteristics of unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.	Preferred (foundation metadata concept)
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	Preferred (foundation metadata concept)
A very rare benign bone disorder with characteristics of bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. The disease may be underdiagnosed due to confusion with autosomal dominant osteopetrosis. The condition is usually found incidentally on radiological examination and is very mild, sometimes accompanied by pain. Increased density of the vertebral plates, pelvis and occasionally of the upper femur have been reported, as well as kyphoscoliosis and femoral cysts.	Preferred (foundation metadata concept)
A very rare benign inborn error of glycogen metabolism with characteristic of exercise intolerance. The disease starts generally in adolescence or adulthood. Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness. Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmodulin) encoded by different genes on different chromosomes and differentially expressed in various tissues.	Preferred (foundation metadata concept)
A very rare bone disease reported in two siblings with characteristics of bowed tibia, hypoplastic thumbs, multiple fractures, distinctive facial features and developmental delay. There have been no further descriptions in the literature since 1993.	Preferred (foundation metadata concept)
A very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal.	Preferred (foundation metadata concept)
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.	Preferred (foundation metadata concept)
A very rare congenital cranial dysinnervation disorder characterized by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects.	Preferred (foundation metadata concept)
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Preferred (foundation metadata concept)
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.	Preferred (foundation metadata concept)
A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families.	Preferred (foundation metadata concept)
A very rare developmental defect with connective tissue involvement disorder that has characteristics of tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (such as hallux valgus, talipes equinovarus).	Preferred (foundation metadata concept)

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
900000000001115012	United States of America English language reference set	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001116013	US English	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001117016	United States of America English language reference set (foundation metadata concept)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)