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
Free Text Disorder | SCTID | Notes |
---|---|---|
Treacher-Collins | 82203000 | Child of big parent 65094009 |
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. |
Apert Syndrome | 205258009 | Should we include all children of parent 268262006 "Acrocephalosyndactyly (disorder)"? |
Arthrogryposis | 52616002 | Freeman-Sheldon syndrome (disorder) 715216008 | Distal arthrogryposis type 2B (disorder) | | 111246005 isn't specific to the face - most common arthrogryposis involves distal part of limbs Instead I added more specific variants |
Beckwith Weidemann Syndrome | 81780002Also parent 270516002 | Congenital macroglossia (disorder) | | |
CHARGE Association | 47535005 | |
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 | 190268003 | Include all children? Does this condition require goiter to be a difficult airway? |
Congenital lingual tumor | 127229000 | Neoplasm of lingual tonsil (disorder) | and take all children | 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) | and all children | |
Cornelia de Lange Syndrome | 40354009 | |
Cri-Du-Chat | 70173007 | |
Cystic Hygroma | 40225001 (cystic hygroma finding)399882002 (cystic hygroma disorder) | |
Down Syndrome | 41040004 | |
Emery Dreifuss Muscular Dystrophy | 111508004 | |
Epidermolysis Bullosa | 61003004 | Include all children? |
Escobar Syndrome | 80773006 | |
Fibrodysplasia Ossificans Progressiva Syndrome | 82725007 | |
First Arch Syndrome | 15557005 | Child of megaparent 65094009 Include all children? |
Freeman Sheldon Syndrome | See arthrogryposis above | |
Goldenhar Hemifacial Microsomia | 205418005 | |
Hunter Syndrome | 70737009 | |
Hurler Syndrome | 65327002 | |
Klippel-Feil Syndrome | 5601008 | |
Laryngeal Cleft | many types... | |
Laryngeal Web | 297159008 | Include all children? |
Laryngeal Hemangioma | 703199001 | Laryngotracheal hemangioma (disorder) | | 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) | ? |
Tracheal Hemangioma | See above | |
Li-Fraumeni Syndrome | 428850001 | |
Lipoid Proteinosis | 38692000 | |
Microstomia | 14582003 | |
Moebius Syndrome | 429753001 | Another 65094009 child |
Neurofibromatosis | 81669005 | Do most patients with NF have a difficult airway? Both Type 1 and Type 2? |
Noonan Syndrome | 205824006 | |
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 | 4602007 | |
Rubinstein Taybi Syndrome | 45582004 | |
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? |
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) | 83092002 | Shprintzen syndrome (disorder) | |
Weaver Syndrome | 63119004 |
Terminology Requests
Request Type | Details | CRS Request ID |
---|---|---|
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 |
Add Child | 28861008 |Crouzon syndrome (disorder)| should be child of 268262006 |Acrocephalosyndactyly (disorder)| Note that "Acrocephalosyndactyly, type II" is already a synonym. | CRS 718445 |
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 |
Add Child | CRS 718447 | |