8Project proposed by Jorge Galvez
Objective
Incorporate list from Pedi-R group of SPA into a SNOMED CT refset, or perhaps a parent concept.
A thought - we could list specific SNOMED concepts, and for some concepts mark them as "also include all children." Then from that list we generate a flattened final refset.
Difficult Airway Finding
718446005 |Difficulty with mask ventilation and tracheal intubation (finding)|
Parent Concepts to Consider
Are all the children of these concepts indicators of difficult airways? Some of them?
Parent Concept | Notes |
---|---|
Not every one of these is a difficult airway | |
Specific Disorders
Disorder / Synonyms | SCTID | YMC notes | Include All Children? | Notes |
---|---|---|---|---|
Acrocephalosyndactyly type I Apert Syndrome | Include additional children (similar to craniosynostosis/also malformation of head and possible difficult airway)?
| Y | Should we include all children of parent 268262006 "Acrocephalosyndactyly (disorder)"? Yes. Please include all children.
| |
Arthrogryposis Freeman Sheldon Syndrome | Include these children if specific to head/face?
Include these children since associated with small chin?
| Y |
Insteadweshouldusethemorespecificvariants here. Alsorequestswere submitted to improve the modeling. | |
Barakat Syndrome also: HDR syndrome
| None | Not sure why this syndrome is associated with difficult airway, but this is the SNOMED code (no children):
| OMIM 146255: "Hypoparathyroidism, sensorineural deafness, and renal disease" | |
Beckwith WeidemannSyndrome | Y | |||
CHARGE Association | Include additional parent "Charge-like syndrome?"
| Y | ||
Chromosome 11p13 deletion syndrome WAGR syndrome | Y | |||
Congenital High Airway Obstruction Syndrome (CHAOS) | Not sure how to deal with this one... | Sounds like this is too broad to add to SNOMED - sometimes CHAOS manifests as tracheal atresia, sometimes as laryngeal atresia, sometimes laryngeal stenosis.
Consider the following references. Can we create CHAOS as a parent concept for conditions that lead to high upper airway obstruction in the developmental period? Many of these are identified by fetal ultrasonography/MR imaging. Examples: create a concept of CHAOS - Congenital high airway obstruction syndrome that links the following conditions: Congenital atresia of larynx (disorder) SCTID: 64981002 Congenital atresia of larynx (disorder) SCTID: 64981002 Congenital stenosis of trachea due to tracheal web (disorder) SCTID: 447811005 Cyst of larynx (disorder) SCTID: 195867000 Congenital atresia of trachea (disorder) SCTID: 53189005 Subglottic stenosis (disorder) SCTID: 22668006 Congenital atresia of glottis (disorder) SCTID: 52879001 Agenesis of larynx (disorder) SCTID: 204535000 Congenital absence of trachea (disorder) SCTID: 3987009 Hamid-Sowinska, A., et al. (2011). "Congenital high airway obstruction syndrome." Neuro Endocrinol Lett 32(5): 623-626. Congenital high airway obstruction syndrome (CHAOS) is a very rare fetal malformation caused by obstruction of fetal airway because of laryngeal or tracheal atresia, subglottic stenosis, laryngeal cyst or laryngeal web. The prenatal diagnosis is inferred from secondary changes such as enlarged, hyperechogenic lungs,ascites and/or hydrops, flattened or everted diaphragms, dilated distal airways and mediastinal compression. There are onlyfew cases of long-term survival described inliterature. We present the case offetus with such secondary changes diagnosed during routine ultrasound evaluation in 20 weeks' gestation. There were no other abnormalities and thekariotype was normal. In 26 weeks' gestation fetal hydrops appeared and subsequent polyhydramnios occurred in 28 weeks' gestation. The patient was planned for EXIT procedure during laborin experienced in CHAOS cases center. In 29 weeks'gestation the premature rupture of membranes and regular uterine contractions occurred and we've performedcesarean section. A multidisciplinary team of neonatologists,laryngologists and pediatric surgeons made their efforts to save the newborn, but therewas complete laryngeal atresia and trachealagenesia and immediate tracheostomy was impossible. The most important about CHAOS areearly diagnosis, detailed fetal assessment and an adequate postnatal intervention for establishing fetal airways.
Gilboa, Y., et al. (2009). "Early sonographic diagnosis of congenital high-airwayobstruction syndrome." Ultrasound Obstet Gynecol 33(6): 731-733.
Vidaeff, A. C., et al. (2007). "More or less CHAOS: case report and literature review suggesting the existence of a distinct subtype of congenital high airway obstruction syndrome." Ultrasound Obstet Gynecol 30(1): 114-117. Congenital obstruction of the upper airway (CHAOS) is a rare, usually lethal abnormality. A literature review of 36 prenatally diagnosed cases of CHAOS and the analysis of our own case suggest the existence of a distinct subtype of CHAOS, raising important implications for diagnosis and management. Serial fetal ultrasound examinations at 17-23 weeks' gestation showed hyperechoic and enlarged lungs, mediastinal shift, flattened diaphragm,polyhydramnios and apparently fluid-filled esophagus, findings interpreted as bilateral cystic adenomatoid malformation Type III. Ultrasound findings normalized around 32 weeks. The diagnosis of CHAOS was made after birth at term by direct laryngoscopy prompted by ventilatory difficulties and failed attempts at intubation. A pinhole opening posterior to the cricoid cartilage allowed the passage of an endotracheal tube. Based on observations in our case and those of five similar cases in the literature, we describe for the first time a subtype of CHAOS that is characterized by minorpharyngotracheal or laryngotracheal communications and associated with a less severe natural history and even resolution of ultrasound findings. In spite of this, a high index of awareness should be maintained becauseresolution of ultrasound findings does not necessarily indicateresolution of underlying pathology.
Hedrick, M. H., et al. (1994). "Congenital high airway obstruction syndrome (CHAOS): a potential for perinatal intervention." J Pediatr Surg 29(2): 271-274. Congenital high airway obstruction syndrome (CHAOS) results in a predictable constellation of findings: large echogenic lungs, flattened or inverted diaphragms, dilated airways distal to the obstruction, and fetal ascites and/or hydrops. The authors report on four fetuses referred for evaluation. None of them survived. Postmortem evaluation showed that three fetuses had laryngeal atresia, and one had tracheal stenosis. Coexistent fetal anomalies were accurately diagnosed by ultrasound in three of the four patients. The finding of CHAOS on prenatal ultrasound examination is diagnostic of complete or near-complete obstruction of the fetal upper airway, most likely caused by laryngeal atresia. A greater understanding of the natural history of CHAOS may permit improved prenatal and perinatal management.
| ||
Congenital Hypothyroidism | I would favor using congenital hypothyroidism with diffuse goiter And consider these children due to frequent goiter:
Include these due to association with cleft palate?
Include these children due to association with craniosynostosis?
| Y | Does this condition require goiter to be a difficult airway? See also: 278503003 |Congenital hypothyroidism with diffuse goiter (disorder)| | |
Congenital lingual tumor | Include all children:
| Y | Itprobably doesn't matter if the tumor is congenital to be a difficult airway. | |
Congenital temporomandibular joint dysfunction |
| Should we include all TMJ joint dysfunction due to concern for poor mouth opening?
| See Poveda-Roda review of TMJ tumors/pseudotumors 235119009 | Mandibular condyle aplasia (disorder) | 708669006 | Bifid mandibular condyle (disorder) | 444552001 | Hyperplasia of mandibular bone (disorder) | 126551000 | Neoplasm of mandible (disorder) | 126550004 | Neoplasm of maxilla (disorder) | 50603008 | Ankylosis of temporomandibular joint (disorder) | | |
Cornelia de Lange Syndrome | Y | |||
Cri-Du-Chat | There is a Cri Du chat (finding) but I don't think that's associated with craniofacial abnormalities? 42712003 | Y | ||
Cystic Hygroma | Include additional parent?
| Y | ||
DiGeorge Sequence (22Q Deletion) | Not listed under DiGeorge sequence:
| Y | There are several variants of 22q deletion Most common is22q11.2 deletion which is associated with both DiGeorge syndrome and velocardiofacial syndrome (below). See http://www.omim.org/entry/192430 Many of the terms have the same parent, "DiGeorge Sequence" so I think that might be adequate. | |
Down Syndrome | Include additional parents?
| Y | ||
Emanuel Syndrome 11:22 chromosomal translocation | Y | |||
Emery Dreifuss Muscular Dystrophy | Y | |||
Epidermolysis Bullosa | Not sure why this is a possible difficult airway... | Y |
| |
Escobar Syndrome | ||||
Fibrodysplasia Ossificans Progressiva Syndrome | ||||
First Arch Syndrome | Include additional parent? (Japanese case report: Airway obstruction after general anesthesia in a patient with the first and second branchial arch syndrome. Masui. 2000 Nov;49(11):1270-3)
| Y | Child of megaparent 65094009 | |
Goldenhar Hemifacial Microsomia | Y | |||
Hunter Syndrome | Include additional?
| Y | ||
Hurler Syndrome | Include additional?
| Y | ||
Hunter-Mcalpine Craniosynostosis Syndrome | None |
| Need to submit request to add concept | |
Klippel-Feil Syndrome | Include additional?
| Y | ||
Laryngeal Cleft | Parent:
| many types... | ||
Laryngeal Web | Children:
| Y | Include all children? | |
Laryngeal Hemangioma | Shouldn't "subglottic hemangioma" and "laryngeal hemangioma" be considered children of the parent "laryngotracheal hemangioma?" Include additional parents?
| Y | Should we add synonyms "subglottic hemangioma" and "laryngeal hemangioma" to this term? Or are those separate concepts? Should this concept be added as a child of 60600009 | Disorder of the larynx (disorder)| ? | |
Li-Fraumeni Syndrome | Y | |||
Lipoid Proteinosis | Y | |||
Microstomia | Y | |||
Moebius Syndrome | Include additional parent?
| Y | Another 65094009 child | |
Neurofibromatosis Type 1 | NF1 patients have been reported, though rarely, to have fibromas in the oropharynx (e.g., tongue base, larynx). NF2 is more rare, but a case report of difficult airway exists:
Interestingly, both NF1 and NF2 are associated with cervical lesions that pose a special concern for intubation (e.g., developemtn of hematoma with neck extension or jaw thrust maneuver) | Y | Do most patients with NF have a difficult airway? Both Type 1 and Type 2? | |
Noonan's Syndrome | Y | |||
Prader WilliSyndrome | Include additional parents?:
| Y | ||
Rheumatoid Arthritis |
| If limiting this to RA of cervical spine, then perhaps also include?:
| Parent term 69896004 is pretty broad Should we only include 201764007 | Rheumatoid arthritis of cervical spine (disorder) | 69896004 |Rheumatoid arthritis (disorder)| | |
Robin Sequence | Include additional (not listed as children under Robin sequence)?:
| Y | ||
Rubinstein-Taybi Syndrome | Y | |||
Smith-Lemli-Opitz syndrome (disorder) | Child of 77701002 | Multiplemalformationsyndrome, moderate short stature, facial (disorder) | | |||
Stickler Syndrome | ||||
Tracheal Stenosis | I would favor including all children | Include all children? | ||
Treacher-Collins | Child of big parent 65094009 | |||
Trisomy 4p | Include additional?:
| |||
Trisomy 8 | Interestingly, "Trisomy 8" only has parent "Trisomy and partial trisomy of autosome" There is another parent "Anomaly of chromosome pair 8 (disorder) 48082007" but it includes some minor mutations in chromosome 8 that may not manifest in severe enough symptoms to warrant difficult airway. If not including all children in 48082007, then perhaps include:
| |||
Trisomy 9 | Similar to trisomy 8, "Trisomy 9" only has parent "Trisomy and partial trisomy of autosome." There are additional parents:
There is a case report of laryngeal atresia with partial trisomy (Genet Couns 1991 2(2):83-91), but if not interested in partial trisomy, note there is another entry under 5051002 (similar to trisomy 8 above)
| |||
Trisomy 13 (Patau Syndrome) | ||||
Trisomy 18 (Edwards Syndrome) | Consider "Anomaly of chromosome pair 18 (disorder) 59033006?" Includes children:
| |||
Trisomy 22 | Similar to trisomy 8 and 9, "Trisomy 22" only has parent "Trisomy and partial trisomy of autosome." Include additional:
| |||
VACTERL | Include additional:
| |||
Vallecular Cyst | ||||
Velocardiofacial Syndrome (Shprintzen Syndrome) | ||||
Weaver Syndrome | Include additional:
|
Terminology Requests
Request Type | Details | CRS Request ID & Status |
---|---|---|
Add Child |
268262006 |Acrocephalosyndactyly (disorder)| Note that "Acrocephalosyndactyly, type V" is already a synonym. | CRS 444115 Ready for Release |
Add Child |
268262006 |Acrocephalosyndactyly (disorder)| Note that "Acrocephalosyndactyly, type II" is already a synonym. | CRS 718445 Pending Clarification: "28861008|Crouzon syndrome (disorder)| is currently a descendant of 57219006|Craniosynostosis syndrome (disorder)| and this aligns with Orphanet and the ICD-11 draft. Proposal: inactivate the description Acrocephalosyndactyly, type II as there does not appear to be evidence that this is a current synonym for the disease." Note that OMIM does Acrocephalosyndactyly type II as a synonym, but for Apert Syndrome (which is confusing). Also see Bissonnette B, Dalens BJ. Syndromes, rapid recognition and perioperative implications. McGraw-Hill Professional. (2006) ISBN:0071354557. |
Rename / Add Synonym |
| CRS 718446 Merged with below |
Add Child | CRS 718447 The concept 52616002|Freeman-Sheldon syndrome (disorder)| has been remodelled to become a child of 24269006|Distal arthrogryposis syndrome (disorder)|. A new synonym has been added Distal arthrogryposis type 2A and a text definition has been added to the concept. | |
Add Concept | FSN: Hypoparathyroidism-deafness-renal disease syndrome Description: Barakat syndrome OMIM 146255: "Hypoparathyroidism, sensorineural deafness, and renal disease" | CRS 719796 Proposed parent is 74345006 |Congenital disorder due to abnormality of chromosome number OR structure (disorder)|
|
Add Concept | Hunter-Mcalpine Craniosynostosis Syndrome | CRS 719797 Proposed parent is 57219006 |Craniosynostosis syndrome (disorder)| |
|
1 Comment
James Palmer
Hello, paeds isn't my area so this were better addressed by a specialist,
sorry!
J