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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) |

Cornelia de Lange Syndrome

Scg expression
40354009 | De Lange syndrome (disorder) |

 Y 
Cri-Du-Chat

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

 Y 
Cystic Hygroma

Scg expression
399882002 | Cystic hygroma (disorder) |

 Y 

DiGeorge Sequence (22Q Deletion)

Scg expression
77128003 | DiGeorge sequence (disorder) |

 Y

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) |

 Y 

Emanuel Syndrome

11:22 chromosomal translocation

Scg expression
702417004 | Supernumerary der(22)t(11;22) syndrome (disorder) |

 Y

OMIM 609029

ORPHA96170

Emery Dreifuss Muscular Dystrophy

Scg expression
111508004

 | Emery-Dreifuss muscular dystrophy (disorder) |

Y  
Epidermolysis Bullosa

Scg expression
61003004 | Epidermolysis bullosa (disorder) |

Y

 

Include all children?

Escobar Syndrome

80773006

  
Fibrodysplasia Ossificans Progressiva Syndrome

82725007

  
First Arch Syndrome

Scg expression
15557005 | First arch syndrome (disorder) |

 Y

Child of megaparent 65094009

Goldenhar Hemifacial Microsomia

 

 

Scg expression
205418005 | Goldenhar syndrome (disorder) |
 

Y   
Hunter Syndrome

Scg expression
70737009 | Mucopolysaccharidosis type II (disorder) |

 Y 
Hurler Syndrome

Scg expression
65327002

 | Mucopolysaccharidosis type I-H (disorder) |

Y  
Hunter-Mcalpine Craniosynostosis Syndrome

None

 

Need to submit request to add concept

OMIM 601379

ORPHA97340

Klippel-Feil Syndrome

Scg expression
5601008

 | Klippel-Feil sequence (disorder) |

Y  
Laryngeal Cleft  many types...
Laryngeal Web

Scg expression
297159008

 | Laryngeal web (disorder) |

Y Include all children?
Laryngeal Hemangioma

Scg expression
703199001 | Laryngotracheal hemangioma (disorder) |

 Y

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

Scg expression
428850001

 | Li-Fraumeni syndrome (disorder) |

Y  
Lipoid Proteinosis

Scg expression
38692000

 | Lipid proteinosis (disorder) |

Y  
Microstomia

Scg expression
14582003

 | Microstomia (disorder) |

Y  
Moebius Syndrome

Scg expression
429753001

 | Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) |

Y Another 65094009 child
Neurofibromatosis Type 1

Scg expression
81669005

 | Neurofibromatosis (morphologic abnormality) |

Y 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) |

 Y 

Prader Willi Syndrome

Scg expression
89392001

 | Prader-Willi syndrome (disorder) |

Y  
Rheumatoid Arthritis69896004

 

 

 

Parent term 69896004 is pretty broad

Should we only include 201764007 | Rheumatoid arthritis of cervical spine (disorder) |

Scg expression
69896004 | Rheumatoid arthritis (disorder) |

Robin Sequence

Scg expression
4602007 | Robin sequence (disorder) |

 Y 
Rubinstein-Taybi Syndrome

Scg expression
45582004 | Rubinstein-Taybi syndrome (disorder) |

 Y 

Smith-Lemli-Opitz syndrome (disorder)

Scg expression
43929004 | Smith-Lemli-Opitz syndrome (disorder) |

 Child of
77701002 | Multiple malformation syndrome, moderate short stature, facial (disorder) |
Stickler Syndrome

Scg expression
78675000 | Stickler syndrome (disorder) |

  
Tracheal Stenosis

Scg expression
11296007 | Stenosis of trachea (disorder) |

 

Include all children?

Treacher-Collins

Scg expression
82203000 | Treacher Collins syndrome (disorder) |

 

Child of big parent 65094009

Trisomy 4p

Scg expression
49024004 | 4p partial trisomy syndrome (disorder) |

  

Trisomy 8

Scg expression
205649008 | Trisomy 8 (disorder) |

  
Trisomy 9

Scg expression
205650008 | Trisomy 9 (disorder) |

  
Trisomy 13 (Patau Syndrome)

Scg expression
254268004

(partial)

 | Partial trisomy 13 in Patau's syndrome (disorder) |
Scg expression
21111006 | Complete trisomy 13 syndrome (disorder) |

21111006 (complete)

  
Trisomy 18 (Edwards Syndrome)
 Scg expression
51500006 | Complete trisomy 18 syndrome (disorder) |
  
Trisomy 22
 Scg expression
205655003 | Trisomy 22 (disorder) |
  
VACTERL
 Scg expression
431395004 | Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) |
  
Vallecular Cyst431395004
 Scg expression
232410007 | Vallecular cyst (disorder) |
  
Velocardiofacial Syndrome (Shprintzen Syndrome)
 Scg expression
83092002 | Shprintzen syndrome (disorder) | 

  
Weaver Syndrome
 Scg expression
63119004 | Weaver syndrome (disorder) |
  
 
Terminology Requests
Request TypeDetailsCRS Request ID & Status
Add Child
 Scg expression
83015004 | Saethre-Chotzen syndrome (disorder)
  should be child of
 Scg expression
268262006 | Acrocephalosyndactyly (disorder) |
Note that "Acrocephalosyndactyly, type V" is already a synonym.
Compare concepts
CRS 444115
Ready for Release
Add Child
 Scg expression
28861008 | Crouzon syndrome (disorder) 
should be child of
 Scg expression
268262006 | Acrocephalosyndactyly (disorder) |
Note that "Acrocephalosyndactyly, type II" is already a synonym.
Compare concepts
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
 Scg expression
52616002 | Freeman-Sheldon syndrome (disorder) | 
should be renamed to "Distal arthrogryposis type 2A (disorder)" with the original name as a synonym.
See OMIM 193700 for reference
CRS 718446
Merged with below
Add Child
 Scg expression
52616002 | Freeman-Sheldon syndrome (disorder) | 
should be a child of
 Scg expression
24269006 | Distal arthrogryposis syndrome (disorder) |
See OMIM 193700 for reference
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
HDR syndrome
OMIM 146255: "Hypoparathyroidism, sensorineural deafness, and renal disease"
ORPHA2237
 
Add Concept
Hunter-Mcalpine Craniosynostosis Syndrome
OMIM 601379
ORPHA97340
 
|
49024004 | 4p partial trisomy syndrome (disorder) |