Page History

...

Disorder / Synonyms

SCTID

Include All Children?

Notes

Acrocephalosyndactyly type I

Apert Syndrome

Scg expression
205258009 \| Acrocephalosyndactyly type I (disorder) \|

Y

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

Arthrogryposis

Freeman Sheldon Syndrome

Scg expression
52616002 \| Freeman-Sheldon syndrome (disorder) \|

Scg expression
715216008 \| Distal arthrogryposis type 2B (disorder) \|

Y

Scg expression
111246005 \| Arthrogryposis (disorder) \|

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

Instead we should use the more specific variants Insteadweshouldusethemorespecificvariants here.

Also requests were Alsorequestswere submitted to improve the modeling.

Barakat Syndrome

also:

HDR syndrome
10HDR-bakarat
10p-barakat

None

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

ORPHA2237

Beckwith Weidemann SyndromeWeidemannSyndrome

Scg expression
81780002 \| Beckwith-Wiedemann syndrome (disorder) \|

Y

CHARGE Association

Scg expression
47535005 \| Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) \|

Y

Chromosome 11p13 deletion syndrome

WAGR syndrome

Scg expression
715215007 \| Chromosome 11p13 deletion syndrome (disorder) \|

Y

Congenital High Airway Obstruction Syndrome (CHAOS)

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 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

Scg expression
190268003 \| Congenital hypothyroidism (disorder) \|

Y

Does this condition require goiter to be a difficult airway?

See also:

Scg expression
278503003 \| Congenital hypothyroidism with diffuse goiter (disorder) \|

Congenital lingual tumor

Scg expression
127229000 \| Neoplasm of lingual tonsil (disorder) \|

Y

It probably Itprobably doesn't matter if the tumor is congenital to be a difficult airway.

Congenital temporomandibular joint dysfunction

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

Scg expression
40354009 \| De Lange syndrome (disorder) \|

Y

Cri-Du-Chat

Scg expression
70173007 \| 5p partial monosomy syndrome (disorder) \|

Y

Cystic Hygroma

Scg expression
399882002 \| Cystic hygroma (disorder) \|

Y

DiGeorge Sequence (22Q Deletion)

Scg expression
77128003 \| DiGeorge sequence (disorder) \|

Y

There are several variants of 22q deletion

Most common is 22q11is22q11.2 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

Scg expression
41040004 \| Complete trisomy 21 syndrome (disorder) \|

Y

Emanuel Syndrome

11:22 chromosomal translocation

Scg expression
702417004 \| Supernumerary der(22)t(11;22) syndrome (disorder) \|

Y

OMIM 609029

ORPHA96170

Emery Dreifuss Muscular Dystrophy

Scg expression
111508004 \| Emery-Dreifuss muscular dystrophy (disorder) \|

Y

Epidermolysis Bullosa

Scg expression
61003004 \| Epidermolysis bullosa (disorder) \|

Y

Escobar Syndrome

80773006

Fibrodysplasia Ossificans Progressiva Syndrome

82725007

First Arch Syndrome

Scg expression
15557005 \| First arch syndrome (disorder) \|

Y

Child of megaparent 65094009

Goldenhar Hemifacial Microsomia

Scg expression
205418005 \| Goldenhar syndrome (disorder) \|

Y

Hunter Syndrome

Scg expression
70737009 \| Mucopolysaccharidosis type II (disorder) \|

Y

Hurler Syndrome

Scg expression
65327002 \| Mucopolysaccharidosis type I-H (disorder) \|

Y

Hunter-Mcalpine Craniosynostosis Syndrome

None

Need to submit request to add concept

OMIM 601379

ORPHA97340

Klippel-Feil Syndrome

Scg expression
5601008 \| Klippel-Feil sequence (disorder) \|

Y

Laryngeal Cleft

many types...

Laryngeal Web

Scg expression
297159008 \| Laryngeal web (disorder) \|

Y

Include all children?

Laryngeal Hemangioma

Scg expression
703199001 \| Laryngotracheal hemangioma (disorder) \|

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

Scg expression
428850001 \| Li-Fraumeni syndrome (disorder) \|

Y

Lipoid Proteinosis

Scg expression
38692000 \| Lipid proteinosis (disorder) \|

Y

Microstomia

Scg expression
14582003 \| Microstomia (disorder) \|

Y

Moebius Syndrome

Scg expression
429753001 \| Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) \|

Y

Another 65094009 child

Neurofibromatosis Type 1

Scg expression
81669005 \| Neurofibromatosis (morphologic abnormality) \|

Y

Do most patients with NF have a difficult airway? Both Type 1 and Type 2?

Noonan's Syndrome

Scg expression
205824006 \| Noonan's syndrome (disorder) \|

Y

Prader Willi SyndromeWilliSyndrome

Scg expression
89392001 \| Prader-Willi syndrome (disorder) \|

Y

Rheumatoid Arthritis

Parent term 69896004 is pretty broad

Should we only include 201764007 | Rheumatoid arthritis of cervical spine (disorder) |

Scg expression
69896004 \| Rheumatoid arthritis (disorder) \|

Robin Sequence

Scg expression
4602007 \| Robin sequence (disorder) \|

Y

Rubinstein-Taybi Syndrome

Scg expression
45582004 \| Rubinstein-Taybi syndrome (disorder) \|

Y

Smith-Lemli-Opitz syndrome (disorder)

Scg expression
43929004 \| Smith-Lemli-Opitz syndrome (disorder) \|

Child of

77701002 | Multiple malformation syndromeMultiplemalformationsyndrome, moderate short stature, facial (disorder) |

Stickler Syndrome

Scg expression
78675000 \| Stickler syndrome (disorder) \|

Tracheal Stenosis

Scg expression
11296007 \| Stenosis of trachea (disorder) \|

Include all children?

Treacher-Collins

Scg expression
82203000 \| Treacher Collins syndrome (disorder) \|

Child of big parent 65094009

Trisomy 4p

Scg expression
49024004 \| 4p partial trisomy syndrome (disorder) \|

Trisomy 8

Scg expression
205649008 \| Trisomy 8 (disorder) \|

Trisomy 9

Scg expression
205650008 \| Trisomy 9 (disorder) \|

Trisomy 13 (Patau Syndrome)

Scg expression
254268004 \| Partial trisomy 13 in Patau's syndrome (disorder) \|

Scg expression
21111006 \| Complete trisomy 13 syndrome (disorder) \|

Trisomy 18 (Edwards Syndrome)

Scg expression
51500006 \| Complete trisomy 18 syndrome (disorder) \|

Trisomy 22

Scg expression
205655003 \| Trisomy 22 (disorder) \|

VACTERL

Scg expression
431395004 \| Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) \|

Vallecular Cyst

Scg expression
232410007 \| Vallecular cyst (disorder) \|

Velocardiofacial Syndrome (Shprintzen Syndrome)

Scg expression
83092002 \| Shprintzen syndrome (disorder) \|

Weaver Syndrome

Scg expression
63119004 \| Weaver syndrome (disorder) \|

...

Page tree

Versions Compared

Old Version 30

New Version 31

Key