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204508009: Choanal atresia (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
313584014 Choanal atresia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
589741019 Choanal atresia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4545334018 Atresia of posterior naris en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4545335017 Congenital atresia of choana en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4545336016 Congenital atresia of posterior nares en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4545337013 Atresia of posterior nares en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
871981000172116 atrésie choanale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
886301000172114 atrésie des choanes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418821001000110 Choanalatresie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


7 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Choanal atresia Is a Congenital anomaly of digestive system false Inferred relationship Some
Choanal atresia Is a Congenital deformity of nose (disorder) false Inferred relationship Some
Choanal atresia Is a Disorder of nasopharynx false Inferred relationship Some
Choanal atresia Occurrence Congenital false Inferred relationship Some
Choanal atresia Associated morphology Congenital malformation false Inferred relationship Some 1
Choanal atresia Finding site Structure of choana (body structure) true Inferred relationship Some 1
Choanal atresia Finding site External nose structure false Inferred relationship Some 2
Choanal atresia Is a Disorder of nasal cavity false Inferred relationship Some
Choanal atresia Is a Congenital abnormal shape of nose false Inferred relationship Some
Choanal atresia Is a Congenital anomaly of digestive tract false Inferred relationship Some
Choanal atresia Is a Congenital anomaly of upper respiratory system true Inferred relationship Some
Choanal atresia Associated morphology anomalie congénitale false Inferred relationship Some 1
Choanal atresia Associated morphology Congenital deformity false Inferred relationship Some 2
Choanal atresia Associated morphology Congenital deformity false Inferred relationship Some 2
Choanal atresia Finding site Structure of respiratory system (body structure) false Inferred relationship Some 2
Choanal atresia Associated morphology Congenital deformity false Inferred relationship Some 3
Choanal atresia Is a Congenital anomaly of digestive organ (disorder) false Inferred relationship Some
Choanal atresia Is a Congenital anomaly of digestive tract false Inferred relationship Some
Choanal atresia Is a Nasopharynx finding false Inferred relationship Some
Choanal atresia Is a Congenital atresia of nares true Inferred relationship Some
Choanal atresia Associated morphology Congenital atresia false Inferred relationship Some 1
Choanal atresia Is a Congenital anomaly of upper alimentary tract false Inferred relationship Some
Choanal atresia Associated morphology Congenital atresia false Inferred relationship Some 1
Choanal atresia Finding site Structure of choana (body structure) false Inferred relationship Some 1
Choanal atresia Is a Congenital atresia of nasopharynx false Inferred relationship Some
Choanal atresia Occurrence Congenital false Inferred relationship Some 2
Choanal atresia Associated morphology Congenital atresia false Inferred relationship Some 2
Choanal atresia Finding site Structure of choana (body structure) false Inferred relationship Some 2
Choanal atresia Occurrence Congenital true Inferred relationship Some 1
Choanal atresia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Choanal atresia Associated morphology Atresia (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Atresia of the posterior nares Is a False Choanal atresia Inferred relationship Some
An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. The condition is most probably hereditary, transmitted as an autosomal dominant trait. Is a True Choanal atresia Inferred relationship Some
Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Is a False Choanal atresia Inferred relationship Some
Choanal atresia, unspecified Is a False Choanal atresia Inferred relationship Some
Choanal atresia NOS Is a False Choanal atresia Inferred relationship Some
Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously. Is a True Choanal atresia Inferred relationship Some
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Is a True Choanal atresia Inferred relationship Some
A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. Is a True Choanal atresia Inferred relationship Some
Bilateral choanal atresia Is a True Choanal atresia Inferred relationship Some
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. Is a True Choanal atresia Inferred relationship Some
Repair of choanal atresia (procedure) Has focus True Choanal atresia Inferred relationship Some 2
Repair of choanal atresia by intranasal approach Has focus True Choanal atresia Inferred relationship Some 2
Repair of choanal atresia by transpalatal approach (procedure) Has focus True Choanal atresia Inferred relationship Some 2
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. Is a True Choanal atresia Inferred relationship Some

This concept is not in any reference sets

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