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


Status: current, estado de definición de concepto necesario pero no suficiente (metadato del núcleo). Date: 31-Jan 2002. Module: módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)

Descriptions:

Id Description Lang Type Status Case? Module
2911457018 conjunto de referencias de idioma inglés de acuerdo con la ortografía de Estados Unidos de Norteamérica es sinónimo (metadato del núcleo) Active letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo) Latin American Spanish extension module
2911675011 conjunto de referencias de idioma inglés de acuerdo con la ortografía de Estados Unidos de Norteamérica (metadato fundacional) es descripción completa Active letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo) Latin American Spanish extension module
2911702016 inglés estadounidense es sinónimo (metadato del núcleo) Active uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo) Latin American Spanish extension module
900000000001115012 United States of America English language reference set en sinónimo (metadato del núcleo) Active letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo) módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)
900000000001116013 US English en sinónimo (metadato del núcleo) Active letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo) módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)
900000000001117016 United States of America English language reference set (foundation metadata concept) en descripción completa Active letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo) módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)


1321854 members. Search Members:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
conjunto de referencias de idioma inglés de acuerdo con la ortografía de Estados Unidos de Norteamérica (metadato fundacional) es un[a] conjunto de referencias de lenguaje para el idioma inglés true relación inferida restricción existencial (metadato del núcleo)

Members acceptabilityId
A type of focal epilepsy where all the seizures originate within the dorsolateral area of the frontal lobe. preferido
A type of focal epilepsy where all the seizures originate within the frontal lobe. preferido
A type of focal epilepsy where all the seizures originate within the insular cortex. preferido
A type of focal epilepsy where all the seizures originate within the lateral area of the temporal lobe. preferido
A type of focal epilepsy where all the seizures originate within the mesial area of the temporal lobe. preferido
A type of focal epilepsy where all the seizures originate within the mesiobasal limbic area of the temporal lobe. preferido
A type of focal epilepsy where all the seizures originate within the occipital lobe. preferido
A type of focal epilepsy where all the seizures originate within the opercular area of the frontal lobe. preferido
A type of focal epilepsy where all the seizures originate within the orbitofrontal area of the frontal lobe. preferido
A type of focal epilepsy where all the seizures originate within the parietal lobe. preferido
A type of focal epilepsy where all the seizures originate within the primary motor cortex area of the frontal lobe. preferido
A type of focal epilepsy where all the seizures originate within the supplementary motor cortex area of the frontal lobe. preferido
A type of focal epilepsy where all the seizures originate within the temporal lobe. preferido
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. preferido
A type of immune mediated hypersensitivity process that represents the underlying mechanism of allergic conditions. preferido
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. preferido
A type of lateral auxiliary canal located at the pulp chamber floor or on the coronal aspect of a root canal of a molar or premolar tooth. preferido
A type of nemaline myopathy (NM) only observed in several families of the Amish community. preferido
A type of non-immune hypersensitivity process that represents the underlying mechanism of pseudoallergic conditions. preferido
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. preferido
A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. preferido
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. preferido
A type of primary hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue. preferido
A type of primary hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism. preferido
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. preferido
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). preferido
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. preferido
A type of reference set that allocates an order to a set of SNOMED CT associations. preferido
A type of reference set that allocates an order to a set of SNOMED CT components. preferido
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. preferido
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. preferido
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. preferido
A type of solid dose form intended to dissolve or disintegrate slowly in the mouth while being sucked. preferido
A type of solid dose form prepared by compression intended to dissolve or disintegrate slowly in the mouth while being sucked. preferido
A type of solid dose form prepared by molding and intended to dissolve or disintegrate slowly in the mouth while being sucked. preferido
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. preferido
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. preferido
A type of supernumerary tooth which has the morphology of a normal fully formed tooth. preferido
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. preferido
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. preferido
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. preferido
A unit/mL preferido
A urethral route that begins through the urethra. preferido
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. preferido
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. preferido
A variation of the pulp canal of a tooth, lateral canals are small branches of the main root canal in a tooth that can be difficult to treat. preferido
A vegetarian diet that excludes all animal-based foods and animal-based food and ingredients. preferido
A vegetarian diet that includes egg and excludes other animal-based food and ingredients. preferido
A vegetarian diet that includes fish and seafood, egg, and mammalian milk-based food and excludes all other animal-based protein food and ingredients. preferido
A vein located in the antecubital fossa preferido
A venous and lymphatic drainage technique applied through the lower extremities. preferido
A vertical line passing through the lateral malleolus, used as a point of reference in standing lateral x-rays and postural evaluation. preferido
A vertical line used as a reference in standing antero-posterior x-rays and postural evaluation, passing equidistant between the heels. preferido
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. preferido
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. preferido
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. preferido
A vertical misalignment where one eye tends to move downward, only noticeable when binocular vision is disrupted such as when one eye is covered. preferido
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. preferido
A vertical misalignment where one eye tends to move upward, only noticeable when binocular vision is disrupted such as when one eye is covered. preferido
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. preferido
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. preferido
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. preferido
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. preferido
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. preferido
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. preferido
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. preferido
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. preferido
A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. preferido
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. preferido
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. preferido
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. preferido
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. preferido
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. preferido
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. preferido
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. preferido
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. preferido
A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. preferido
A very rare disorder which is probably hereditary. It is not caused by a disorder of disaccharidease activity or by impairment of monosaccharide transport but rather by abnormal permeability of lactose through the gastric mucosa. preferido
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. preferido
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. preferido
A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported. preferido
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. preferido
A very rare inherited form of thyroglossal duct cyst (TDC) characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck. preferido
A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. preferido
A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production. preferido
A very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. preferido
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. preferido
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails. preferido
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. preferido
A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. preferido
A very rare non-dysraphic spinal cord lipoma which is located within the spinal cord. There is no defect in the overlying dura. preferido
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. preferido
A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles. preferido
A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Caused by homozygous mutation in the gene encoding alsin ALS2 (2q33-q35). preferido
A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21. preferido
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. preferido
A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. preferido
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. preferido
A very rare syndrome characterized by progressive loss of bone, usually the carpal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. preferido
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. preferido
A very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss. It has been reported in two brothers. Dysmorphic features include hypertelorism, upper lid coloboma, midface hypoplasia, saddle nose deformity with a midline nasal cleft, thick philtrum and everted lower lip. The two brothers had developmental delay. preferido

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Reference Sets

Latin American Spanish language reference set

Chile language reference set (foundation metadata concept)

conjunto de referencias descriptivas de la estructura de otros conjuntos de referencias

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