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Disorder / Synonyms

SCTID

Notes

Acrocephalosyndactyly type I

Apert Syndrome

Scg expression
205258009 | Acrocephalosyndactyly type I (disorder) |

Should we include all children of parent 268262006 "Acrocephalosyndactyly (disorder)"?

Arthrogryposis

Freeman Sheldon Syndrome


Scg expression
52616002 | Freeman-Sheldon syndrome (disorder) |
Scg expression
715216008 | Distal arthrogryposis type 2B (disorder) |

Scg expression
111246005 | Arthrogryposis (disorder) |
isn't specific to the face - most common arthrogryposis involves distal part of limbs

Instead we should use the more specific variants here.

Also requests were submitted to improve the modeling.

Barakat Syndrome

also:

HDR syndrome
10HDR-bakarat
10p-barakat

 

None

OMIM 146255: "Hypoparathyroidism, sensorineural deafness, and renal disease"

 ORPHA2237

Beckwith Weidemann Syndrome

Scg expression
81780002 | Beckwith-Wiedemann syndrome (disorder) |

 
CHARGE Association

Scg expression
47535005 | Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder) |

 

Chromosome 11p13 deletion syndrome

WAGR syndrome

Scg expression
715215007 | Chromosome 11p13 deletion syndrome (disorder) |

 
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

Scg expression
190268003 | Congenital hypothyroidism (disorder) |

Include all children?

Does this condition require goiter to be a difficult airway?
See also:
 Scg expression
278503003 | Congenital hypothyroidism with diffuse goiter (disorder) |
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) |
126551000 | Neoplasm of mandible (disorder) |
126550004 | Neoplasm of maxilla (disorder) |and 
 all childrenSee Poveda-Roda review of TMJ tumors/pseudotumors
 
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
 Scg expression
702417004 | Supernumerary der(22)t(11;22) syndrome (disorder) |
OMIM 609029
ORPHA96170
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?
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 Hemangioma703199001 | 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 HemangiomaSee 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 Arthritis69896004
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
 
...