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 | SCID | Notes |
|---|---|---|
| Treacher-Collins | 82203000 | |
22Q Deletion | ||
| Apert Syndrome | ||
| Arthrogryposis | ||
| Beckwith Weidemann Syndrome | ||
| Charge Association | ||
| Congenital High Airway Obstruction Syndrome (CHAOS) | ||
| Congenital Hypothyroidism | ||
| Congenital lingual tumor | ||
| Congenital temporomandibular joint disfunction | ||
| Cornelia de Lange Syndrome | ||
| Cri-Du-Chat | ||
| Cystic Hygroma | ||
| Down Syndrome | ||
| Emery Dreifuss Muscular Dystrophy | ||
| Epidermolysis Bullosa | ||
| Escobar Syndrome | ||
| Fibrodysplasia Ossificans Progressiva Syndrome | ||
| First Arch Syndrome | ||
| Freeman Sheldon Syndrome | ||
| Goldenhar Hemifacial Microsomia | ||
| Hunter Syndrome | ||
| Hurler Syndrome | ||
| Klippel-Feil Syndrome | ||
| Laryngeal Cleft | ||
| Laryngeal Web | ||
| Laryngeal Hemangioma | ||
| Tracheal Hemangioma | ||
| Li-Fraumeni Syndrome | ||
| Lipoid Proteinosis | ||
| Microstomia | ||
| Moebius Syndrome | ||
| Neurofibromatosis | ||
| Noonan Syndrome | ||
| Trader Willi Syndrome | ||
| Rheumatoid Arthritis | ||
| Robin Sequence | ||
| Rubinstein Taybi Syndrome | ||
| Smith-Limli-Opitz Syndrome | ||
| Stickler Syndrome | ||
| Tracheal Stenosis | ||
| Trisomy 4p | ||
Trisomy 8 | ||
| Trisomy 9 | ||
| Trisomy 13 (Patau Syndrome) | ||
| Trisomy 18 (Edwards Syndrome) | ||
| Trisomy 22 | ||
| VACTERL | ||
| Vallecular Cyst | ||
| Velocardiofacial Syndrome (Shprintzen Syndrome) | ||
| Weaver Syndrome |