SNOMED Concepts Associated with Difficult Airways (mostly Pediatric)

Parent of

Not every one of these is a difficult airway

Acrocephalosyndactyly type I

Apert Syndrome

Include additional children (similar to craniosynostosis/also malformation of head and possible difficult airway)?

• Saethre-Chotzen syndrome (disorder) 83015004

• Summitt syndrome (disorder) 733606001 

Y

Should we include all children of parent 268262006 "Acrocephalosyndactyly (disorder)"?

Yes. Please include all children.

• Acrocephalopolysyndactyly (disorder) 205260006

• Acrocephalosyndactyly type I (disorder) 205258009

• Acrocephalosyndactyly type V (disorder) 70410008

• Craniosynostosis Philadelphia type (disorder) 720818003

• Curry Jones syndrome (disorder) 720819006

Arthrogryposis

Freeman Sheldon Syndrome

Include these children if specific to head/face?

• Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) 715986009

• Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) 720746006

• Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) 716169009

• Hydrocephalus with cleft palate and joint contracture syndrome (disorder) 718576001

• Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) 719398004

• Neurogenic arthrogryposis multiplex congenital (disorder) 715316005

Include these children since associated with small chin?

• Lethal congenital contracure syndrome type 1 (disorder) 715418007

•  Lethal congenital contracure syndrome type 2 (disorder) 715419004

• Lethal congenital contracure syndrome type 3 (disorder) 715420005

Y

isn't specific to the face - most common arthrogryposis involves distal part of limbs

Insteadweshouldusethemorespecificvariants here.

Alsorequestswere submitted to improve the modeling.

Barakat Syndrome

also:

HDR syndrome
10HDR-bakarat
10p-barakat

None

Not sure why this syndrome is associated with difficult airway, but this is the SNOMED code (no children):

• Hypoparathyroidism, deafness, renal disease syndrome (disorder) 724282009 

OMIM 146255: "Hypoparathyroidism, sensorineural deafness, and renal disease"

ORPHA2237

Beckwith WeidemannSyndrome

Y

CHARGE Association

Include additional parent "Charge-like syndrome?"

• Cleft palate with coloboma of eye and deafness syndrome (disorder) 718574003

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:

• Endemic cretinism (disorder)  75065003

• Familial thyroid dyshormonogenesis (disorder) 718183003

• Iodide oxidation defect (disorder) 52724003

• Iodide transport defect (disorder) 22558005

• Sporadic cretinism (disorder) 84781002

• Thyroid hormone responsiveness defect (disorder) 50375007

Include these due to association with cleft palate?

• Bamforth Lazarus syndrome (disorder) 722375007

Include these children due to association with craniosynostosis?

•  Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) 722051004

Y

Does this condition require goiter to be a difficult airway?

See also:

Congenital lingual tumor

Include all children:

• Benign neoplasm of lingual tonsil (disorder) 92184003 

• Carcincoma in situ of lingual tonsil (disorder) 92642005

• Malignant tumor of lingual tonsil (disorder) 363377003 with all children Carcinoma of lingual tonsil (disorder) 254423005; Primary malignant neoplasm of lingual tonsil (disorder) 93868009; Primary squamous cell carcinoma of lingual tonsil (disorder) 722673007; Secondary malignant neoplasm of lingual tonsil (disorder) 94379004]

• Neoplasm of uncertain behavior of lingual tonsil (disorder) 94908004

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?

• Temporomandibular joint-pain-dysfunction syndrome (disorder) 386207004 

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?

• Cystic lymphangioma (morphologic abnormality) 40225001

Y

DiGeorge Sequence (22Q Deletion)

Not listed under DiGeorge sequence:

• Deletion of part of chromosome 22 (disorder) 726399005

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?

• Translocation Down syndrome (disorder) 371045000

• Trisomy 21-mitotic nondisjunction mosaicism (disorder) 205616004 – maybe not this one since it should be a milder form of Down Syndrome?

Y

Emanuel Syndrome

11:22 chromosomal translocation

Y

OMIM 609029

ORPHA96170

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)

• First and second branchial arch syndrome (703973009) 

Y

Child of megaparent 65094009

Goldenhar Hemifacial Microsomia

Y

Hunter Syndrome

Include additional?

• Trigonocephaly with broad thumb syndrome (disorder) 719949001 aka Hunter Rodd Hoffman syndrome  

Y

Hurler Syndrome

Include additional?

• Mucopolysaccharidosis type I-H/S (disorder) 26734009 aka Hurler-Scheie  

Y

Hunter-Mcalpine Craniosynostosis Syndrome

None

• Hunter McAlpine craniosynostosis syndrome (disorder) 721227001 

Need to submit request to add concept

OMIM 601379

ORPHA97340

Klippel-Feil Syndrome

Include additional?

• Congenital dystrophia brevicollis (disorder) 388981000 aka Bonnevie-Ullrich and Klippel-Feil syndrome 

Y

Laryngeal Cleft

Parent:

• Congenital cleft larynx (disorder) 232461002

• has children:

•  

  • -Congenital cleft of posterior cricoid cartilage (disorder) 204558002

  • -Laryngeal cleft type I (disorder) 306949002

  • -Laryngeal cleft type II (disorder) 306950002

  • -Laryngeal cleft type III (disorder) 306951003

  • -Laryngeal cleft type IV (disorder) 306953000

  • -Opitz Frias syndrome (disorder) 81771002

many types...

Laryngeal Web

Children:

• Acquired laryngeal web (disorder) 232447007

• Congenital web of larynx (disorder) 47070001

• Subglottic web (disorder) 444921008

Y

Include all children?

Laryngeal Hemangioma

Shouldn't "subglottic hemangioma" and "laryngeal hemangioma" be considered children of the parent "laryngotracheal hemangioma?"

Include additional parents?

• PHACE Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder) 698765007

• PHACES Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality syndrome and sternal anomaly syndrome (disorder) 698766008

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