Choanal atresia, posterior

Preferred Label : Choanal atresia, posterior;

Symbol : PCA;

CISMeF acronym : PCA;

Type : Phenotype or locus, molecular basis unknown;

Description : Choanal atresia is a threat to life because young infants cannot establish the habit of mouth breathing. About 8% of cases are familial (Gorlin, 1982). It is probably a multifactorial trait like cleft lip and cleft palate. The fact that both affected successive generations and affected single generations have been reported supports this (Lang, 1912; Phelps, 1926; McGovern, 1950). Ransome (1964) found 12 families with 2 or more members affected. One of these, in which 4 of 5 sibs were affected, was described by him. Most reports of multiple affected relatives have concerned sibs. However, affected persons in the family reported by Lang (1912) included, in addition to the proband, the mother, sister and maternal aunt and perhaps a brother. Fendel (1966) described affected sibs. Grahne and Kaltiokallio (1966) observed affected sisters. The condition is said to occur twice as often in girls as in boys and more frequently in the right side than the left side. PCA has been observed with the Treacher Collins syndrome (154500) and with hyperostotic dwarfism (151050). Shashi et al. (1994) described choanal atresia in a patient with the deletion 9p syndrome (9p- syndrome; 158170) and found a previous report of this association. Shashi et al. (1998) reported a third case of deletion 9p with choanal atresia. Harris et al. (1997) examined data from 3 large registries of congenital malformations and identified 444 infants with choanal atresia, for an average rate of 0.82 affected per 10,000 births. No statistically significant difference in rate was noted for race, sex, maternal age or parity, or laterality in unilateral cases; however, a slightly increased risk at twinning was noted. An analysis of associated malformations, present in 47% of the infants without chromosome anomalies, indicated that a weak, nonrandom association can be demonstrated between the malformations of the CHARGE complex (214800). If the definition of;

Prefixed ID : %608911;

Details

Origin ID

608911;

UMLS CUI

C0220723;

Automatic exact mappings (from CISMeF team)
- Choanal atresia [ORDO Disease]
- FLVCR choline and heme transporter 1 [HGNC gene]
- FLVCR heme transporter 1 [ORDO Gene]
- Intravenous Patient-Controlled Analgesia [NCIt concept]
- Parachloroamphetamine [NCIt concept]
- Patent arterial duct [ORDO Disease]
- Pidolic Acid [NCIt concept]
- Posterior Cerebral Artery [NCIt concept]
- Posterior choanal atresia [HPO term]
- Principal Component Analysis [NCIt concept]
- analgesia, Patient-Controlled [MeSH Descriptor]
- choanal atresia [DO Concept]
- ductus arteriosus, patent [MeSH Descriptor]
- ductus arteriosus, patent [MeSH concept]
- passive cutaneous anaphylaxis [MeSH Descriptor]
- passive cutaneous anaphylaxis [MeSH concept]
- primary cutaneous amyloidosis [DO Concept]
- symbol withdrawn AXPC1 [HGNC gene]
Currated CISMeF NLP mapping
- choanal atresia, posterior [MeSH concept]
- choanal atresia, posterior [MeSH Supplementary Concept]
DO Cross reference
- choanal atresia [DO Concept]
False automatic mappings
- Posterior cortical atrophy [ORDO Disease]
ORDO concept(s)
- Choanal atresia [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Posterior choanal atresia [HPO term]
- choanal atresia, posterior [MeSH Supplementary Concept]
- choanal atresia, posterior [MeSH concept]

Keyword's position in hierarchy(ies) :

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