Project proposed by Jorge Galvez
Incorporate list from Pedi-R group of SPA into a SNOMED CT refset, or perhaps a parent concept.
| Free Text Disorder | SCTID | Notes |
|---|---|---|
| Treacher-Collins | 82203000 | Jorge - can you look at parent concept 65094009 "Multiple malformation syndrome with facial defects as major feature (disorder)" - do we want to include all 48 children in the refset?
|
22Q Deletion | 77128003 | DiGeorge sequence (disorder)
| There are several variants of 22q deletion Patrick McCormick: I think the 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 | Jorge - should be include all children of parent 268262006 "Acrocephalosyndactyly (disorder)"? |
| Arthrogryposis | 111246005 | This isn't specific to the face - most common arthrogryposis involves distal part of limbs perhaps 52616002 | Freeman-Sheldon syndrome (disorder) | instead? |
| Beckwith Weidemann Syndrome | 81780002 | |
| Charge Association | 47535005 | |
| Congenital High Airway Obstruction Syndrome (CHAOS) | ||
| Congenital Hypothyroidism | 190268003 | |
| 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). | |
| Congenital temporomandibular joint disfunction | ||
| Cornelia de Lange Syndrome | 40354009 | |
| Cri-Du-Chat | 70173007 | |
| Cystic Hygroma | 40225001 (cystic hygroma finding) | 399882002 (alternative, cystic hygroma disorder) |
| Down Syndrome | 41040004 | |
| Emery Dreifuss Muscular Dystrophy | 111508004 | |
| Epidermolysis Bullosa | 61003004 | |
| Escobar Syndrome | 80773006 | |
| Fibrodysplasia Ossificans Progressiva Syndrome | 82725007 | |
| First Arch Syndrome | 15557005 | |
| Freeman Sheldon Syndrome | 52616002 | |
| Goldenhar Hemifacial Microsomia | 205418005 | |
| Hunter Syndrome | 70737009 | |
| Hurler Syndrome | 65327002 | |
| Klippel-Feil Syndrome | 5601008 | |
| Laryngeal Cleft | many types... | |
| Laryngeal Web | 297159008 | |
| Laryngeal Hemangioma | No specific diagnosis | |
| Tracheal Hemangioma | ||
| Li-Fraumeni Syndrome | 428850001 | |
| Lipoid Proteinosis | 38692000 | |
| Microstomia | 14582003 | |
| Moebius Syndrome | 429753001 | |
| Neurofibromatosis | 81669005 | |
| Noonan Syndrome | 205824006 | |
Prader Willi Syndrome | 89392001 | |
| Rheumatoid Arthritis | 69896004 | |
| Robin Sequence | 4602007 | |
| Rubinstein Taybi Syndrome | 45582004 | |
Smith-Lemli-Opitz syndrome (disorder) | 43929004 | |
| Stickler Syndrome | 78675000 | |
| Tracheal Stenosis | 11296007 | |
| 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. |