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Disorder / Synonyms

SCTID

Include All Children?Notes

Acrocephalosyndactyly type I

Apert Syndrome

Scg expression
205258009 | Acrocephalosyndactyly type I (disorder) |

YShould 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) |

Y

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) |

Y 
CHARGE Association

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

Y 

Chromosome 11p13 deletion syndrome

WAGR syndrome

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

Y 
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

Scg expression
190268003 | Congenital hypothyroidism (disorder) |

Y

Does this condition require goiter to be a difficult airway?

See also:

Scg expression
278503003 | Congenital hypothyroidism with diffuse goiter (disorder) |

Congenital lingual tumor

Scg expression
127229000 | Neoplasm of lingual tonsil (disorder) |

Y

It probably doesn't matter if the tumor is congenital to be a difficult airway.

Congenital temporomandibular joint dysfunction

 

 

See Poveda-Roda review of TMJ tumors/pseudotumors

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) |

50603008 | Ankylosis of temporomandibular joint (disorder) |

 

See Poveda-Roda review of TMJ tumors/pseudotumors

 

Cornelia de Lange Syndrome

Scg expression
40354009 | De Lange syndrome (disorder) |

  
Cri-Du-Chat

Scg expression
70173007 | 5p partial monosomy syndrome (disorder) |

  
Cystic Hygroma

Scg expression
399882002 | Cystic hygroma (disorder) |

40225001 (cystic hygroma finding)

399882002 (cystic hygroma disorder)

  
DiGeorge Sequence (22Q Deletion)
 Scg expression
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
 Scg expression
41040004 | Complete trisomy 21 syndrome (disorder) |
  
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
 Scg expression
15557005 | First arch syndrome (disorder) |
 
Child of megaparent 65094009
Goldenhar Hemifacial Microsomia
 
 
 Scg expression
205418005 | Goldenhar syndrome (disorder) |
 
 
  
Hunter Syndrome
 Scg expression
70737009 | Mucopolysaccharidosis type II (disorder) |
  
Hurler Syndrome
65327002
  
Hunter-Mcalpine Craniosynostosis Syndrome
None
 
Need to submit request to add concept
OMIM 601379
ORPHA97340
Klippel-Feil Syndrome
5601008
  
Laryngeal Cleft  many types...
Laryngeal Web
297159008
 Include all children?
Laryngeal Hemangioma
 Scg expression
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) | ?
Li-Fraumeni Syndrome
428850001
  
Lipoid Proteinosis
38692000
  
Microstomia
14582003
  
Moebius Syndrome
429753001
 Another 65094009 child
Neurofibromatosis Type 1
81669005
 Do most patients with NF have a difficult airway? Both Type 1 and Type 2?
Noonan's Syndrome
 Scg expression
205824006 | Noonan's syndrome (disorder) |
  
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
 Scg expression
4602007 | Robin sequence (disorder) |
  
Rubinstein-Taybi Syndrome
 Scg expression
45582004 | Rubinstein-Taybi syndrome (disorder) |
  
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)
 Scg expression
83092002 | Shprintzen syndrome (disorder) | 

  
Weaver Syndrome
63119004
  
...