...
Incorporate list from Pedi-R group of SPA into a SNOMED CT refset, or perhaps a parent concept.
| Free Text Disorder | SCID SCTID | Notes | |
|---|---|---|---|
| Treacher-Collins | 82203000 | ||
22Q Deletion | |||
| Apert Syndrome | 205258009 | ||
| Arthrogryposis | 111246005 | ||
| 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 | |||
| Tracheal Hemangioma | |||
| Li-Fraumeni Syndrome | 428850001 | ||
| Lipoid Proteinosis | 38692000 | ||
| Microstomia | 14582003 | ||
| Moebius Syndrome | 429753001 | ||
| Neurofibromatosis | 81669005 | ||
| Noonan Syndrome | 205824006 | ||
| Trader Prader Willi Syndrome | 89392001 | ||
| Rheumatoid Arthritis | 69896004 | ||
| Robin Sequence | 4602007 | ||
| Rubinstein Taybi Syndrome | 45582004 | ||
Smith-LimliLemli-OpitzSyndromesyndrome (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 | ||
| Weaver Syndrome | 63119004 |