Project 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 | 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 | 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 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: 278503003 |Congenital hypothyroidism with diffuse goiter (disorder)| | |
| 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
| |
| 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 | |||
| 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 | |||
| Hunter Syndrome | |||
| 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 | |||
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 | |||
| Rubinstein-Taybi Syndrome | |||
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) | |||
| Weaver Syndrome | 63119004 |
Terminology Requests
| Request Type | Details | CRS Request ID & Status |
|---|---|---|
| Add Child | 83015004 |Saethre-Chotzen syndrome (disorder)| should be child of 268262006 |Acrocephalosyndactyly (disorder)| Note that "Acrocephalosyndactyly, type V" is already a synonym. | CRS 444115 Ready for Release |
| Add Child | 28861008 |Crouzon syndrome (disorder)| should be child of 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." |
| Rename / Add Synonym | 52616002 |Freeman-Sheldon syndrome (disorder)| should be renamed to "Distal arthrogryposis type 2A (disorder)" with the original name as a 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 |
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