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441880008: Congenital enlargement (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    2818148013 Congenital enlargement (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2818149017 Congenital enlargement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital enlargement Is a Enlargement (morphologic abnormality) false Inferred relationship Some
    Congenital enlargement Is a anomalie congénitale false Inferred relationship Some
    Congenital enlargement Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    hypertrophie congénitale Is a False Congenital enlargement Inferred relationship Some
    Congenital enlarged kidney Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital enlargement of fontanel Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital enlarged nails Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital cardiomegaly Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital enlargement of nasopharynx Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital enlarged kidney Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital enlargement of fontanel Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital enlargement of nasopharynx Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital enlarged nails Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital cardiomegaly Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital tracheobronchomegaly Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital cardiomegaly Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital tracheobronchomegaly Associated morphology False Congenital enlargement Inferred relationship Some 2
    Macrogenia Associated morphology False Congenital enlargement Inferred relationship Some 2
    Congenital macrognathism Associated morphology False Congenital enlargement Inferred relationship Some 3
    macrocéphalie Associated morphology False Congenital enlargement Inferred relationship Some 2
    Macrodactyly of toes - simple Associated morphology False Congenital enlargement Inferred relationship Some 2
    Macrodactyly of toes - fatty nerve tumor Associated morphology False Congenital enlargement Inferred relationship Some 2
    Macrogyria Associated morphology False Congenital enlargement Inferred relationship Some 2
    Bannayan syndrome Associated morphology False Congenital enlargement Inferred relationship Some 2
    Familial megalencephaly Associated morphology False Congenital enlargement Inferred relationship Some 2
    Sporadic megalencephaly Associated morphology False Congenital enlargement Inferred relationship Some 2
    Hemimegalencephaly Associated morphology False Congenital enlargement Inferred relationship Some 2
    Congenital splenomegaly Associated morphology False Congenital enlargement Inferred relationship Some 2
    Congenital macrostomia Associated morphology False Congenital enlargement Inferred relationship Some 2
    Macrodactyly of toe (disorder) Associated morphology False Congenital enlargement Inferred relationship Some 2
    Fetal macrocephaly (disorder) Associated morphology False Congenital enlargement Inferred relationship Some 2
    Bilateral congenital macrostomia Associated morphology False Congenital enlargement Inferred relationship Some 2
    Congenital hyperplasia of kidney Associated morphology False Congenital enlargement Inferred relationship Some 3
    Congenital syphilitic splenomegaly Associated morphology False Congenital enlargement Inferred relationship Some 2
    Giant kidney Associated morphology False Congenital enlargement Inferred relationship Some 2
    Macrotia Associated morphology False Congenital enlargement Inferred relationship Some 2
    Megaloappendix Associated morphology False Congenital enlargement Inferred relationship Some 2
    Congenital megalogastria Associated morphology False Congenital enlargement Inferred relationship Some 3
    Macrophthalmos Associated morphology False Congenital enlargement Inferred relationship Some 2
    Macroencephaly Associated morphology False Congenital enlargement Inferred relationship Some 2
    Congenital macroglossia Associated morphology False Congenital enlargement Inferred relationship Some 2
    Congenital enlargement of nasopharynx Associated morphology False Congenital enlargement Inferred relationship Some 2
    Beckwith-Wiedemann syndrome Associated morphology False Congenital enlargement Inferred relationship Some 6
    Congenital enlargement of fontanel Associated morphology False Congenital enlargement Inferred relationship Some 2
    Congenital focal enlargement of rib Associated morphology False Congenital enlargement Inferred relationship Some 2
    Congenital macrostomia Associated morphology False Congenital enlargement Inferred relationship Some 1
    Bilateral congenital macrostomia Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital cardiomegaly Associated morphology False Congenital enlargement Inferred relationship Some 2
    Congenital macroglossia Associated morphology False Congenital enlargement Inferred relationship Some 1
    Beckwith-Wiedemann syndrome Associated morphology False Congenital enlargement Inferred relationship Some 8
    Megaloappendix Associated morphology False Congenital enlargement Inferred relationship Some 1
    Fetal macrocephaly (disorder) Associated morphology False Congenital enlargement Inferred relationship Some 1
    Bannayan syndrome Associated morphology False Congenital enlargement Inferred relationship Some 1
    macrocéphalie Associated morphology False Congenital enlargement 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 Congenital enlargement Inferred relationship Some 1
    Giant kidney Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital hyperplasia of kidney Associated morphology False Congenital enlargement Inferred relationship Some 3
    Macrodactyly of fingers- fatty nerve tumor Associated morphology False Congenital enlargement Inferred relationship Some 2
    Macrodactyly of fingers - simple Associated morphology False Congenital enlargement Inferred relationship Some 2
    Macrodactyly of hand Associated morphology False Congenital enlargement Inferred relationship Some 2
    Macrodactylia of fingers Associated morphology False Congenital enlargement Inferred relationship Some 2
    Megalencephaly-capillary malformation syndrome Associated morphology False Congenital enlargement Inferred relationship Some 3
    Megalencephalic leukoencephalopathy with subcortical cysts Associated morphology False Congenital enlargement Inferred relationship Some 4
    Macroencephaly Associated morphology False Congenital enlargement Inferred relationship Some 3
    Congenital splenomegaly Associated morphology False Congenital enlargement Inferred relationship Some 3
    Congenital megalogastria Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital macrognathism Associated morphology False Congenital enlargement Inferred relationship Some 4
    Congenital enlarged nails Associated morphology False Congenital enlargement Inferred relationship Some 3
    Congenital enlargement of fontanel Associated morphology False Congenital enlargement Inferred relationship Some 3
    Congenital enlargement of nasopharynx Associated morphology False Congenital enlargement Inferred relationship Some 3
    Congenital enlarged kidney Associated morphology False Congenital enlargement Inferred relationship Some 3
    Congenital focal enlargement of rib Associated morphology False Congenital enlargement Inferred relationship Some 3
    Congenital syphilitic splenomegaly Associated morphology False Congenital enlargement Inferred relationship Some 4
    Congenital macrognathism Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital splenomegaly Associated morphology False Congenital enlargement Inferred relationship Some 1
    Congenital focal enlargement of rib Associated morphology False Congenital enlargement Inferred relationship Some 1
    Familial megalencephaly Associated morphology False Congenital enlargement Inferred relationship Some 3
    Sporadic megalencephaly Associated morphology False Congenital enlargement Inferred relationship Some 3
    Hemimegalencephaly Associated morphology False Congenital enlargement Inferred relationship Some 3
    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 False Congenital enlargement Inferred relationship Some 4
    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 False Congenital enlargement Inferred relationship Some 3
    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 False Congenital enlargement Inferred relationship Some 1
    X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Associated morphology False Congenital enlargement 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 False Congenital enlargement Inferred relationship Some 1
    Macrogyria Associated morphology False Congenital enlargement 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 False Congenital enlargement Inferred relationship Some 1
    Megalocornea Associated morphology False Congenital enlargement 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 False Congenital enlargement Inferred relationship Some 4
    Congenital enlargement of ventricle of brain (disorder) Associated morphology False Congenital enlargement Inferred relationship Some 1
    Megalencephaly-capillary malformation syndrome Associated morphology False Congenital enlargement Inferred relationship Some 1
    Megalencephalic leukoencephalopathy with subcortical cysts Associated morphology False Congenital enlargement 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 False Congenital enlargement Inferred relationship Some 3
    A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. Associated morphology False Congenital enlargement Inferred relationship Some 3
    A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. Associated morphology False Congenital enlargement Inferred relationship Some 2
    Megalopapilla (disorder) Associated morphology False Congenital enlargement 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 Congenital enlargement Inferred relationship Some 8
    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 False Congenital enlargement Inferred relationship Some 3
    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 False Congenital enlargement Inferred relationship Some 5
    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 False Congenital enlargement 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 Congenital enlargement Inferred relationship Some 11
    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 False Congenital enlargement Inferred relationship Some 1
    Tsuge operation on finger for macrodactyly repair Direct morphology False Congenital enlargement Inferred relationship Some 2
    Repair of macrodactyly Direct morphology False Congenital enlargement Inferred relationship Some 2
    Repair of macrodactyly of finger Direct morphology False Congenital enlargement Inferred relationship Some 2

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