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| Parent Concept | Notes | ||||
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| Parent of
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| Not every one of these is a difficult airway | ||||
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Specific Disorders
| Disorder / Synonyms | SCTID | Include All Children? | Notes | ||||||
|---|---|---|---|---|---|---|---|---|---|
Acrocephalosyndactyly type I Apert Syndrome |
| Y | Should we include all children of parent 268262006 "Acrocephalosyndactyly (disorder)"? | ||||||
Arthrogryposis Freeman Sheldon Syndrome |
| Y |
Instead we should use the more specific variants here. Also requests were submitted to improve the modeling. | ||||||
Barakat Syndrome also: HDR syndrome
| None | OMIM 146255: "Hypoparathyroidism, sensorineural deafness, and renal disease" |
| Beckwith Weidemann Syndrome |
| Y | |||||
| CHARGE Association |
| Y | |||||
Chromosome 11p13 deletion syndrome WAGR syndrome |
| 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. | ||||||
| Congenital Hypothyroidism |
| Y | Does this condition require goiter to be a difficult airway? See also:
| ||||
| Congenital lingual tumor | 127229000 | Neoplasm of lingual tonsil (disorder) | | Y | It probably doesn't matter if the tumor is congenital to be a difficult airway. | ||||
| Congenital temporomandibular joint dysfunction | 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) | | See Poveda-Roda review of TMJ tumors/pseudotumors
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| Cornelia de Lange Syndrome | 40354009 | ||||||
| Cri-Du-Chat | 70173007 | ||||||
| Cystic Hygroma | 40225001 (cystic hygroma finding) 399882002 (cystic hygroma disorder) | ||||||
DiGeorge Sequence (22Q Deletion) | 77128003 | DiGeorge sequence (disorder)
| There are several variants of 22q deletion Most common is 22q11.2 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 | 41040004 | ||||||
Emanuel Syndrome 11:22 chromosomal translocation |
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| Emery Dreifuss Muscular Dystrophy | 111508004 | ||||||
| Epidermolysis Bullosa | 61003004 | Include all children? | |||||
| Escobar Syndrome | 80773006 | ||||||
| Fibrodysplasia Ossificans Progressiva Syndrome | 82725007 | ||||||
| First Arch Syndrome |
| Child of megaparent 65094009 | |||||
| Goldenhar Hemifacial Microsomia |
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| Hunter Syndrome |
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| Hurler Syndrome | 65327002 | ||||||
| Hunter-Mcalpine Craniosynostosis Syndrome | None | Need to submit request to add concept | |||||
| Klippel-Feil Syndrome | 5601008 | ||||||
| Laryngeal Cleft | many types... | ||||||
| Laryngeal Web | 297159008 | Include all children? | |||||
| Laryngeal Hemangioma |
| 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 | 428850001 | ||||||
| Lipoid Proteinosis | 38692000 | ||||||
| Microstomia | 14582003 | ||||||
| Moebius Syndrome | 429753001 | Another 65094009 child | |||||
| Neurofibromatosis Type 1 | 81669005 | Do most patients with NF have a difficult airway? Both Type 1 and Type 2? | |||||
| Noonan's Syndrome |
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Prader Willi Syndrome | 89392001 | ||||||
| Rheumatoid Arthritis | 69896004 | Parent term 69896004 is pretty broad Should we only include 201764007 | Rheumatoid arthritis of cervical spine (disorder) | | |||||
| Robin Sequence |
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| Rubinstein-Taybi Syndrome |
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Smith-Lemli-Opitz syndrome (disorder) | 43929004 | Child of 77701002 | Multiple malformation syndrome, moderate short stature, facial (disorder) | | |||||
| Stickler Syndrome | 78675000 | ||||||
| Tracheal Stenosis | 11296007 | Include all children? | |||||
| Treacher-Collins | 82203000 | Child of big parent 65094009 | |||||
| Trisomy 4p | 49024004 | ||||||
Trisomy 8 | 205649008 | ||||||
| Trisomy 9 | 205650008 | ||||||
| Trisomy 13 (Patau Syndrome) | 254268004 (partial) 21111006 (complete) | ||||||
| Trisomy 18 (Edwards Syndrome) | 51500006 | ||||||
| Trisomy 22 | 205655003 | ||||||
| VACTERL | 431395004 | ||||||
| Vallecular Cyst | 431395004 | ||||||
| Velocardiofacial Syndrome (Shprintzen Syndrome) |
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| Weaver Syndrome | 63119004 |
Terminology Requests
| Request Type | Details | CRS Request ID & Status | ||||
|---|---|---|---|---|---|---|
| Add Child |
| CRS 444115 Ready for Release | ||||
| Add Child |
| 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." | ||||
| 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" | |||||
| Add Concept | Hunter-Mcalpine Craniosynostosis Syndrome |
205824006 | Noonan's syndrome (disorder) |