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.
Parent Concepts to Consider
Are all the children of these concepts indicators of difficult airways? Some of them?
| Parent Concept | Notes |
|---|---|
| 65094009 | |
SCTID
82203000
| Multiple malformation syndrome with facial defects as major feature |
| (disorder) | | |
77701002 | Multiple malformation syndrome, moderate short stature, facial (disorder) | | |
| 32003007 | Congenital anomaly of face bones (disorder) | | |
| 268239009 | Congenital abnormality of skull and face bones (disorder) | | Parent of 32003007 |
| 282041002 | Congenital abnormality of oral cavity (disorder) | | Not every one of these is a difficult airway |
77701002 | Multiple malformation syndrome, moderate short stature, facial (disorder) | |
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 |
perhaps 52616002 | Freeman-Sheldon syndrome (disorder) |
instead?
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 |
i found 4 terms: "tumor of lingual tonsil", "benign tumor of lingual tonsil", malignant tumor of lingual tonsil", "malignant tumor of lingual tonsil (disorder).
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 |
|---|---|
| Add Child | 83015004 | Saethre-Chotzen syndrome (disorder) should be child of 268262006 | Acrocephalosyndactyly (disorder) | Note that "Acrocephalosyndactyly, type V" is already a synonym. |
| Add Child | 28861008 | Crouzon syndrome (disorder) should be child of 268262006 | Acrocephalosyndactyly (disorder) | Note that "Acrocephalosyndactyly, type II" is already a synonym. |
| Rename / Add Synonym | 52616002 | Freeman-Sheldon syndrome (disorder) | should be renamed to "Distal arthrogryposis type 2A (disorder)" with the original name as a synonym. |
| Add Child | 52616002 should be a child of 24269006 | Distal arthrogryposis syndrome (disorder) | |