56457002: Congenital atresia (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

93882013 Congenital atresia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

93886011 Congenital imperforation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

794971019 Congenital atresia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3027181000005117 kongenit atresi 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 atresi	Is a	kongenit anomali	false	Inferred relationship	Some
kongenit atresi	Is a	Kongenit malformation	false	Inferred relationship	Some
kongenit atresi	Is a	Impatent structure (morphologic abnormality)	false	Inferred relationship	Some
kongenit atresi	Is a	dysgenese	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital atresia of bilateral anterior nares (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Congenital atresia of bilateral anterior nares (disorder)	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
Bilateral choanal atresia	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Imperforate hymen	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Microperforate hymen	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Congenital atresia of intestine at multiple levels	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Decompression of imperforate anus	Direct morphology	False	kongenit atresi	Inferred relationship	Some	1
A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	2
A rare congenital anomaly of the inferior vena cava characterized by complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices, and hematochezia, among others. Additional venous abnormalities or cardiac malformations are frequently present.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	1
Repair of choanal atresia (procedure)	Direct morphology	False	kongenit atresi	Inferred relationship	Some	1
Repair of choanal atresia by intranasal approach	Direct morphology	False	kongenit atresi	Inferred relationship	Some	1
Repair of choanal atresia by transpalatal approach (procedure)	Direct morphology	False	kongenit atresi	Inferred relationship	Some	1
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth).	Associated morphology	False	kongenit atresi	Inferred relationship	Some	5
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported.	Associated morphology	False	kongenit atresi	Inferred relationship	Some	5

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Reference Sets

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Description inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)