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
Repair of macrodactyly of finger	Direct morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Reduction of gigantism of hand	Direct morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Reduction of macrodactyly of hand (procedure)	Direct morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Macrocephaly and developmental delay syndrome (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Malan overgrowth syndrome	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Macrotia	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Macrocephaly and developmental delay syndrome (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft palate, large ears, small head syndrome (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Globodontia (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculootodental syndrome	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital syphilitic splenomegaly	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)	2
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	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)	2
Fryns macrocephaly	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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)	1
Macroencephaly (disorder)	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)	2
Hemimegalencephaly (disorder)	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)	1
Sporadic megalencephaly	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thrombocythemia with distal limb defect	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Macrophthalmos	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)	2
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)	1
Frank-Ter Haar syndrome	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniolenticulosutural dysplasia (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive frontotemporal pachygyria (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder)	Associated morphology	False	Congenital enlargement	Inferred relationship	Existential restriction modifier (core metadata concept)	3

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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