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Free Text Disorder | SCTID | Notes | ||
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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 | ||
Barakat Syndrome also: HDR syndrome
| None | OMIM 146255: "Hypoparathyroidism, sensorineural deafness, and renal disease" | ||
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) | |||
DiGeorge Sequence (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. | ||
Down Syndrome | 41040004 | |||
Emanuel Syndrome 11:22 chromosomal translocation |
| |||
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? | ||
Treacher-Collins | 82203000 | Child of big parent 65094009 | ||
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 |
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Request Type | Details | CRS Request ID & Status | ||||
---|---|---|---|---|---|---|
Add Child |
| CRS 444115 Ready for Release | ||||
Add Child |
| CRS 718445 Pending Clarification: "28861008|Crouzon syndrome (disorder)| is currently a descendant of 57219006|Craniosynostosis syndrome (disorder)| and this aligns with Orphanet and the ICD-11 draft. Proposal: inactivate the description Acrocephalosyndactyly, type II as there does not appear to be evidence that this is a current synonym for the disease." | ||||
Rename / Add Synonym |
| CRS 718446 Merged with below | ||||
Add Child |
| CRS 718447 The concept 52616002|Freeman-Sheldon syndrome (disorder)| has been remodelled to become a child of 24269006|Distal arthrogryposis syndrome (disorder)|. A new synonym has been added Distal arthrogryposis type 2A and a text definition has been added to the concept. | ||||
Add Concept | FSN: Hypoparathyroidism-deafness-renal disease syndrome Description: Barakat syndrome OMIM 146255: "Hypoparathyroidism, sensorineural deafness, and renal disease"
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