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442021009: Enlargement (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2009. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2818405010 Enlargement (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2818406011 Enlargement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

76 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Enlargement (morphologic abnormality) Is a Morphologically abnormal structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Megalencephaly-capillary malformation syndrome Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 2
Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Central bilateral macrogyria (rolandic and perisylvian) is a neuronal migration disorder with characteristics of pseudobulbar palsy, developmental delay, mild intellectual disability and epilepsy. It has been described in at least four children. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Congenital focal enlargement of rib Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Sporadic megalencephaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 3
Congenital cardiomegaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Megalocornea Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Globodontia (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Buphthalmos (finding) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Enlargement of bilateral lacrimal glands (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Enlargement of bilateral lacrimal glands (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 4
A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 3
Pendred's syndrome Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 1
Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
A rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Hypertaurodontism Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 2
Colpocephaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Acquired enlargement of ventricle of brain Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Single tooth macrodontia (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Relative generalised macrodontia Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Macrodontia Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Lingual goiter Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Localized macrodontia Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Macromelia Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Generalized macrodontia Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Buphthalmos of bilateral eyes (finding) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Buphthalmos of bilateral eyes (finding) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Congenital macrophthalmos of bilateral eyes (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Congenital macrophthalmos of bilateral eyes (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Buphthalmos of right eye Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Buphthalmos of left eye Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Chronic enlargement of bilateral lacrimal glands (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Chronic enlargement of bilateral lacrimal glands (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Megalocornea of bilateral eyes (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Megalocornea of bilateral eyes (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Enlargement of left lacrimal gland (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Enlargement of right lacrimal gland (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Regional lymphadenopathy caused by Bacillus of Calmette-Guérin (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Megalencephaly capillary malformation Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Bilateral megalencephaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Bilateral megalencephaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Graves' disease in remission (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Toxic diffuse goiter with pretibial myxedema Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 5
Toxic diffuse goiter with acropachy Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 3
Fetal cardiomegaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Coxa magna of right femur Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Coxa magna of left femur Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Enlargement of left tonsil Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Enlargement of right tonsil (finding) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Ventriculomegaly due to developmental anomaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Giant fornix syndrome (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Neonatal goiter Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Congenital macrocephaly (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Shell teeth Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Felty's syndrome Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Iodotyrosine deiodination defect Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Thyroglobulin synthesis defect Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Felty syndrome with seronegative erosive rheumatoid arthritis (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 3
Felty syndrome with seronegative rheumatoid arthritis (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Enlargement of spleen due to storage disease (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Iodotyrosyl coupling defect Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Dyshormonogenetic goiter AND iodide leak Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Familial dyshormonogenetic goitre Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Dyshormonogenic goitre Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Diffuse endemic goitre Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Gingival enlargement due to Cowden syndrome Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Gingival enlargement exacerbated by drug (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Gingival enlargement exacerbated by puberty Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Gingival enlargement exacerbated by menstrual cycle (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Gingival enlargement exacerbated by oral contraceptive (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Gingival enlargement due to Sturge-Weber syndrome Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 4
A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Generalized enlargement of gingiva exacerbated by pregnancy Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 3
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Macrogenitosomia (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Male macrogenitosomia praecox Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Macrogenitosomia praecox due to disorder of pineal gland (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Male macrogenitosomia praecox Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 3
Right chronic lacrimal gland enlargement Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Left chronic lacrimal gland enlargement Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterised by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Giant arachnoid granulation (finding) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare thyroid disease characterized by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumors. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Coxa magna of bilateral femurs (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Coxa magna of bilateral femurs (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by variable intellectual disability and/or developmental delay, epilepsy, generalised hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 4
Woody tongue includes the involvement of the sublingual space causing elevation, posterior enlargement and protrusion of the tongue. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 3

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