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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
Substernal goiter Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
goitre diffus toxique avec exophtalmie et avec crise aiguë thyrotoxique Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 3
Toxic uninodular goiter with thyrotoxic crisis Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Pendred's syndrome Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Toxic uninodular goiter Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Lingual goiter Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 3
Intrathyroidal calcification AND goiter syndrome Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Sporadic goiter Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Dyshormonogenetic goiter AND iodide leak Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 2
Pituitary gland enlarged Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Prostate size that is outside the normal limits. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Prostate enlarged on PR Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Mega cisterna magna (finding) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Large ovary Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Fetal cardiomegaly Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 2
Broad attachment of labial frenum (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Enlargement of lacrimal gland Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Enlargement of femoral head as a result of insult to the femoral head or epiphysis in childhood. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Congenital hepatomegaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Congenital syphilitic hepatomegaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Macrogenia Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 1
goitre euthyroïdien Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 1
Autonomously functioning thyroid goiter (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Macrogenia Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Enlargement of root of tongue (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Woody tongue includes the involvement of the sublingual space causing elevation, posterior enlargement and protrusion of the tongue. Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 4
Hypothyroid goiter, acquired Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Diffuse hyperplastic goiter (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 3
Congenital syphilitic hepatomegaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Goitre due to thyroiditis Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Splenomegaly co-occurrent with human immunodeficiency virus infection Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 3
Enlargement of liver co-occurrent with human immunodeficiency virus infection Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 3
Gingival pseudopocket (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Abdominal organomegaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Gingival excess due to pseudopocket Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Localised enlarged lymph nodes Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Pseudohypertrophy Is a True Enlargement (morphologic abnormality) Inferred relationship Some
Enlargement of skeletal muscle Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Ventriculomegaly 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 False Enlargement (morphologic abnormality) Inferred relationship Some 7
Graves' disease in remission (disorder) Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 5
Diffuse thyroid goiter without thyrotoxicosis (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Splenomegaly co-occurrent and due to storage disease Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 3
A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Congenital spade-like hand Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 1
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Schistosomal hepatomegaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Hepatic schistosomal granuloma Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Symmer's pipe-stem fibrosis Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Enlarged nails Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Enlargement of labia (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Repair of macrodactyly Direct morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Tsuge operation on finger for macrodactyly repair Direct morphology False Enlargement (morphologic abnormality) Inferred relationship Some 1
Reduction of macrodactyly of hand Direct morphology False Enlargement (morphologic abnormality) Inferred relationship Some 1
Repair of macrodactyly of finger Direct morphology False Enlargement (morphologic abnormality) Inferred relationship Some 1
Congenital enlargement of nasopharynx Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Hemimegalencephaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 2
Macrophthalmos Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Congenital macrognathism Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Megaloappendix Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Congenital enlarged kidney Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Bannayan syndrome Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Head circumference is less than two standard deviations above the mean, but appears disproportionately large when other factors such as stature are considered. Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Congenital megalogastria Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 1
Megalencephalic leukoencephalopathy with subcortical cysts Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Macrogyria Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Fetal macrocephaly (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Macrotia Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Congenital splenomegaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Congenital tracheobronchomegaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Congenital tracheobronchomegaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Macroencephaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 4
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
macrocéphalie Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 1
Congenital syphilitic splenomegaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Reduction of gigantism of hand Direct morphology False Enlargement (morphologic abnormality) Inferred relationship Some 1
A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Beckwith-Wiedemann syndrome Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 2
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Megalopapilla (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Congenital enlargement of fontanel Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Familial megalencephaly Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Congenital enlargement of ventricle of brain (disorder) Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Congenital enlarged nails Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. Associated morphology True Enlargement (morphologic abnormality) Inferred relationship Some 1
Megalencephaly-capillary malformation syndrome Associated morphology False Enlargement (morphologic abnormality) Inferred relationship Some 2

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