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

93882013 Congenital atresia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

93887019 Atresia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

93887019 Atresia 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 Only initial character 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

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital atresia of bilateral anterior nares	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital atresia of bilateral anterior nares	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bilateral choanal atresia	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Imperforate hymen	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microperforate hymen	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital atresia of intestine at multiple levels	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Decompression of imperforate anus	Direct morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital atresia of inferior vena cava without azygos continuation (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Repair of choanal atresia (procedure)	Direct morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Repair of choanal atresia by intranasal approach	Direct morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Repair of choanal atresia by transpalatal approach (procedure)	Direct morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder)	Associated morphology	False	Congenital atresia	Inferred relationship	Existential restriction modifier (core metadata concept)	5

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Reference Sets

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

REPLACED BY association reference set (foundation metadata concept)