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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital enlargement	Is a	Enlargement (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital enlargement	Is a	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital enlargement	Is a	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
hypertrophie congénitale	Is a	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital enlarged kidney	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital enlargement of fontanel	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital enlarged nails	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cardiomegaly (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital enlargement of nasopharynx	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital enlarged kidney	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital enlargement of fontanel	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital enlargement of nasopharynx	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital enlarged nails	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cardiomegaly (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital tracheobronchomegaly	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cardiomegaly (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital tracheobronchomegaly	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Macrogenia	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital macrognathism	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
macrocéphalie	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Macrodactyly of toes - simple	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Macrodactyly of toes - fatty nerve tumor	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Macrogyria	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bannayan syndrome	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial megalencephaly	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sporadic megalencephaly	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hemimegalencephaly (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital splenomegaly (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital macrostomia (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Macrodactyly of toe (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fetal macrocephaly (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bilateral congenital macrostomia	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital hyperplasia of kidney	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital syphilitic splenomegaly	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Giant kidney	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Macrotia	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Megaloappendix (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital megalogastria	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Macrophthalmos	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Macroencephaly (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital macroglossia (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital enlargement of nasopharynx	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Beckwith-Wiedemann syndrome (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Congenital enlargement of fontanel	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital focal enlargement of rib	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital macrostomia (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral congenital macrostomia	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cardiomegaly (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital macroglossia (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Beckwith-Wiedemann syndrome (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Megaloappendix (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fetal macrocephaly (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bannayan syndrome	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
macrocéphalie	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	1
Giant kidney	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hyperplasia of kidney	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Macrodactyly of fingers- fatty nerve tumor	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Macrodactyly of fingers - simple (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Macrodactyly of hand	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Macrodactylia of fingers	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Megalencephaly-capillary malformation syndrome	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Megalencephalic leucoencephalopathy with subcortical cysts	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Macroencephaly (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital splenomegaly (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital megalogastria	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital macrognathism	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital enlarged nails	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital enlargement of fontanel	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital enlargement of nasopharynx	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital enlarged kidney	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital focal enlargement of rib	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital syphilitic splenomegaly	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital macrognathism	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital splenomegaly (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital focal enlargement of rib	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial megalencephaly	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Sporadic megalencephaly	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hemimegalencephaly (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Fryns macrocephaly	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A rare genetic disease characterised 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	Existential restriction modifier (core metadata concept)	3
X-linked intellectual disability Atkin type (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Macrogyria	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	1
Megalocornea	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frank-Ter Haar syndrome	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital cerebral ventriculomegaly	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephaly-capillary malformation syndrome	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephalic leucoencephalopathy with subcortical cysts	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Overgrowth, macrocephaly, facial dysmorphism syndrome	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Overgrowth, macrocephaly, facial dysmorphism syndrome	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Megalopapilla	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	8
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniolenticulosutural dysplasia (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Megalocornea with intellectual disability syndrome	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare multiple congenital anomalies/dysmorphic syndrome characterised 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	Existential restriction modifier (core metadata concept)	11
Isolated congenital megalocornea	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tsuge operation on finger for macrodactyly repair	Direct morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Repair of macrodactyly	Direct morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Repair of macrodactyly of finger	Direct morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

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
2818148013	Congenital enlargement (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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