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

4618931000005115 kongenit forstørrelse da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenit forstørrelse	Is a	Enlargement (morphologic abnormality)	false	Inferred relationship	Some
kongenit forstørrelse	Is a	kongenit anomali	false	Inferred relationship	Some
kongenit forstørrelse	Is a	dysgenese	false	Inferred relationship	Some

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

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Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

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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
4618931000005115	kongenit forstørrelse	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)