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Disorder / Synonyms

SCTID

YMC notesInclude All Children?Notes

Acrocephalosyndactyly type I

Apert Syndrome


Scg expression
205258009 | Acrocephalosyndactyly type I (disorder) |


Include additional children (similar to craniosynostosis/also malformation of head and possible difficult airway)?

  • Saethre-Chotzen syndrome (disorder) 83015004
  • Summitt syndrome (disorder) 733606001 
Y

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

Yes. Please include all children.

  • Acrocephalopolysyndactyly (disorder) 205260006
  • Acrocephalosyndactyly type I (disorder) 205258009
  • Acrocephalosyndactyly type V (disorder) 70410008
  • Craniosynostosis Philadelphia type (disorder) 720818003
  • Curry Jones syndrome (disorder) 720819006

Arthrogryposis

Freeman Sheldon Syndrome



Scg expression
52616002 | Freeman-Sheldon syndrome (disorder) |


Scg expression
715216008 | Distal arthrogryposis type 2B (disorder) |


Include these children if specific to head/face?

  • Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) 715986009
  • Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) 720746006
  • Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) 716169009
  • Hydrocephalus with cleft palate and joint contracture syndrome (disorder) 718576001
  • Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) 719398004
  • Neurogenic arthrogryposis multiplex congenital (disorder) 715316005


Include these children since associated with small chin?

  • Lethal congenital contracure syndrome type 1 (disorder) 715418007
  •  Lethal congenital contracure syndrome type 2 (disorder) 715419004
  • Lethal congenital contracure syndrome type 3 (disorder) 715420005
Y


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


Insteadweshouldusethemorespecificvariants here.

Alsorequestswere submitted to improve the modeling.

Barakat Syndrome

also:

HDR syndrome
10HDR-bakarat
10p-barakat

 

None

Not sure why this syndrome is associated with difficult airway, but this is the SNOMED code (no children):

  • Hypoparathyroidism, deafness, renal disease syndrome (disorder) 724282009 
 

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

ORPHA2237

Beckwith WeidemannSyndrome


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) |


Include additional parent "Charge-like syndrome?"

  • Cleft palate with coloboma of eye and deafness syndrome (disorder) 718574003
Y 

Chromosome 11p13 deletion syndrome

WAGR syndrome


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



Y 
Congenital High Airway Obstruction Syndrome (CHAOS) ***Not sure how to deal with this one... 

Sounds like this is too broad to add to SNOMED - sometimes CHAOS manifests as tracheal atresia, sometimes as laryngeal atresia, sometimes laryngeal stenosis.

 

Consider the following references. Can we create CHAOS as a parent concept for conditions that lead to high upper airway obstruction in the developmental period? Many of these are identified by fetal ultrasonography/MR imaging.

Examples:

create a concept of CHAOS - Congenital high airway obstruction syndrome that links the following conditions:

Congenital atresia of larynx (disorder) SCTID: 64981002 

Congenital atresia of larynx (disorder) SCTID: 64981002

Congenital stenosis of trachea due to tracheal web (disorder) SCTID: 447811005

Cyst of larynx (disorder) SCTID: 195867000

Congenital atresia of trachea (disorder) SCTID: 53189005

Subglottic stenosis (disorder) SCTID: 22668006

Congenital atresia of glottis (disorder) SCTID: 52879001

 Agenesis of larynx (disorder) SCTID: 204535000

 Congenital absence of trachea (disorder) SCTID: 3987009

Hamid-Sowinska, A., et al. (2011). "Congenital high airway obstruction syndrome." Neuro Endocrinol Lett 32(5): 623-626.

 Congenital high airway obstruction syndrome (CHAOS) is a very rare fetal malformation caused by obstruction of fetal airway because of laryngeal or tracheal atresia, subglottic stenosis, laryngeal cyst or laryngeal web. The prenatal diagnosis is inferred from secondary changes such as enlarged, hyperechogenic lungs,ascites and/or hydrops, flattened or everted diaphragms, dilated distal airways and mediastinal compression. There are onlyfew cases of long-term survival described inliterature. We present the case offetus with such secondary changes diagnosed during routine ultrasound evaluation in 20 weeks' gestation. There were no other abnormalities and thekariotype was normal. In 26 weeks' gestation fetal hydrops appeared and subsequent polyhydramnios occurred in 28 weeks' gestation. The patient was planned for EXIT procedure during laborin experienced in CHAOS cases center. In 29 weeks'gestation the premature rupture of membranes and regular uterine contractions occurred and we've performedcesarean section. A multidisciplinary team of neonatologists,laryngologists and pediatric surgeons made their efforts to save the newborn, but therewas complete laryngeal atresia and trachealagenesia and immediate tracheostomy was impossible. The most important about CHAOS areearly diagnosis, detailed fetal assessment and an adequate postnatal intervention for establishing fetal airways.

 

Gilboa, Y., et al. (2009). "Early sonographic diagnosis of congenital high-airwayobstruction syndrome." Ultrasound Obstet Gynecol 33(6): 731-733.

 

Vidaeff, A. C., et al. (2007). "More or less CHAOS: case report and literature review suggesting the existence of a distinct subtype of congenital high airway obstruction syndrome." Ultrasound Obstet Gynecol 30(1): 114-117.

 Congenital obstruction of the upper airway (CHAOS) is a rare, usually lethal abnormality. A literature review of 36 prenatally diagnosed cases of CHAOS and the analysis of our own case suggest the existence of a distinct subtype of CHAOS, raising important implications for diagnosis and management. Serial fetal ultrasound examinations at 17-23 weeks' gestation showed hyperechoic and enlarged lungs, mediastinal shift, flattened diaphragm,polyhydramnios and apparently fluid-filled esophagus, findings interpreted as bilateral cystic adenomatoid malformation Type III. Ultrasound findings normalized around 32 weeks. The diagnosis of CHAOS was made after birth at term by direct laryngoscopy prompted by ventilatory difficulties and failed attempts at intubation. A pinhole opening posterior to the cricoid cartilage allowed the passage of an endotracheal tube. Based on observations in our case and those of five similar cases in the literature, we describe for the first time a subtype of CHAOS that is characterized by minorpharyngotracheal or laryngotracheal communications and associated with a less severe natural history and even resolution of ultrasound findings. In spite of this, a high index of awareness should be maintained becauseresolution of ultrasound findings does not necessarily indicateresolution of underlying pathology.

 

Hedrick, M. H., et al. (1994). "Congenital high airway obstruction syndrome (CHAOS): a potential for perinatal intervention." J Pediatr Surg 29(2): 271-274.

 Congenital high airway obstruction syndrome (CHAOS) results in a predictable constellation of findings: large echogenic lungs, flattened or inverted diaphragms, dilated airways distal to the obstruction, and fetal ascites and/or hydrops. The authors report on four fetuses referred for evaluation. None of them survived. Postmortem evaluation showed that three fetuses had laryngeal atresia, and one had tracheal stenosis. Coexistent fetal anomalies were accurately diagnosed by ultrasound in three of the four patients. The finding of CHAOS on prenatal ultrasound examination is diagnostic of complete or near-complete obstruction of the fetal upper airway, most likely caused by laryngeal atresia. A greater understanding of the natural history of CHAOS may permit improved prenatal and perinatal management.

 

Congenital Hypothyroidism


Scg expression
190268003 | Congenital hypothyroidism (disorder) |


I would favor using congenital hypothyroidism with diffuse goiter

And consider these children due to frequent goiter:

  • Endemic cretinism (disorder)  75065003
  • Familial thyroid dyshormonogenesis (disorder) 718183003
  • Iodide oxidation defect (disorder) 52724003
  • Iodide transport defect (disorder) 22558005
  • Sporadic cretinism (disorder) 84781002
  • Thyroid hormone responsiveness defect (disorder) 50375007


Include these due to association with cleft palate?

  • Bamforth Lazarus syndrome (disorder) 722375007

Include these children due to association with craniosynostosis?

  •  Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) 722051004
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) |


Include all children:

Y

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

Congenital temporomandibular joint dysfunction

 

Should we include all TMJ joint dysfunction due to concern for poor mouth opening?

  • Temporomandibular joint-pain-dysfunction syndrome (disorder) 386207004 


 

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) |


There is a Cri Du chat (finding) but I don't think that's associated with craniofacial abnormalities. ? 42712003Y 
Cystic Hygroma


Scg expression
399882002 | Cystic hygroma (disorder) |


Include additional parent?

  • Cystic lymphangioma (morphologic abnormality) 40225001
Y 

DiGeorge Sequence (22Q Deletion)


Scg expression
77128003 | DiGeorge sequence (disorder) |


Not listed under DiGeorge sequence:

  • Deletion of part of chromosome 22 (disorder) 726399005
Y

There are several variants of 22q deletion

Most common is22q11.2 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) |


Include additional parents?

  • Translocation Down syndrome (disorder) 371045000
  • Trisomy 21-mitotic nondisjunction mosaicism (disorder) 205616004 – maybe not this one since it should be a milder form of Down Syndrome?
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) |


Not sure why this is a possible difficult airway...Y

 

Escobar Syndrome


Scg expression
80773006 |Escobar syndrome (disorder)|



  
Fibrodysplasia Ossificans Progressiva Syndrome


Scg expression
82725007 |Progressive myositis ossificans (disorder)|



  
First Arch Syndrome


Scg expression
15557005 | First arch syndrome (disorder) |


Include additional parent? (Japanese case report: Airway obstruction after general anesthesia in a patient with the first and second branchial arch syndrome. Masui. 2000 Nov;49(11):1270-3)?

  • First and second branchial arch syndrome (703973009) 
Y

Child of megaparent 65094009

Goldenhar Hemifacial Microsomia


Scg expression
205418005 | Goldenhar syndrome (disorder) |



Y 
Hunter Syndrome


Scg expression
70737009 | Mucopolysaccharidosis type II (disorder) |


Include additional parent?

  • Trigonocephaly with broad thumb syndrome (disorder) 719949001 aka Hunter Rodd Hoffman syndrome  
Y 
Hurler Syndrome


Scg expression
65327002 | Mucopolysaccharidosis type I-H (disorder) |


Include additional parent?

  • Mucopolysaccharidosis type I-H/S (disorder) 26734009 aka Hurler-Scheie  
Y 
Hunter-Mcalpine Craniosynostosis Syndrome

None

  • Hunter McAlpine craniosynostosis syndrome (disorder) 721227001 
 

Need to submit request to add concept

OMIM 601379

ORPHA97340

Klippel-Feil Syndrome


Scg expression
5601008 | Klippel-Feil sequence (disorder) |


Include additional parent?

  • Congenital dystrophia brevicollis (disorder) 388981000 aka Bonnevie-Ullrich and Klippel-Feil syndrome 
Y 
Laryngeal Cleft 

Parent:

  • Congenital cleft larynx (disorder) 232461002
    has children:
      -Congenital cleft of posterior cricoid cartilage (disorder) 204558002
      -Laryngeal cleft type I (disorder) 306949002
      -Laryngeal cleft type II (disorder) 306950002
      -Laryngeal cleft type III (disorder) 306951003
      -Laryngeal cleft type IV (disorder) 306953000
      -Opitz Frias syndrome (disorder) 81771002
 many types...
Laryngeal Web


Scg expression
297159008 | Laryngeal web (disorder) |


Children:

  • Acquired laryngeal web (disorder) 232447007
  • Congenial Congenital web of larynx (disorder) 47070001
  • Subglottic web (disorder) 444921008
YInclude all children?
Laryngeal Hemangioma


Scg expression
703199001 | Laryngotracheal hemangioma (disorder) |
***Y


Should we add synonyms Shouldn't "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)| ?

be considered children of the parent "laryngotracheal hemangioma?"


Include additional parents?

  • PHACE Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder) 698765007
  • PHACES Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality syndrome and sternal anomaly syndrome (disorder) 698766008
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
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 SyndromeLipoid Proteinosis


Scg expression
42975300138692000 | Congenital nonprogressive myopathy with Moebius and Robin sequences Lipid proteinosis (disorder) |



YAnother 65094009 child MicrostomiaNeurofibromatosis Type 1


Scg expression
8166900514582003 | NeurofibromatosisMicrostomia (morphologic abnormalitydisorder) |



YDo most patients with NF have a difficult airway? Both Type 1 and Type 2? Moebius Noonan's Syndrome


Scg expression
205824006429753001 | Noonan's syndrome Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) |


Include additional parent?

  • Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) 724174003
Y Another 65094009 childNeurofibromatosis Type 1Prader WilliSyndrome


Scg expression
8939200181669005 | Prader-Willi syndrome (disorderNeurofibromatosis (morphologic abnormality) |
Y 


NF1 patients have been reported, though rarely, to have fibromas in the oropharynx (e.g., tongue base, larynx). NF2 is more rare, but a case report of difficult airway exists:

  • Haldar R, Khandelwal A, Vagyannavar R, Srivastava S (2017) Obscure retropharyngeal mucocutaneous masses associated with acoustic neurofibromatosis: A source of difficult airway management. J Neurosurg Anesthesiol. 29(3):369-370.


Interestingly, both NF1 and NF2 are associated with cervical lesions that pose a special concern for intubation (e.g., developemtn of hematoma with neck extension or jaw thrust maneuver)

YDo 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 WilliSyndrome


Scg expression
89392001 | Prader-Willi syndrome (disorder) |


Include additional parents?:

  • Royer's syndrome (disorder) 37355009 aka Prader Willi syndrome AND diabetes
  • Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) 716334004 aka Prader Willi habitus with osteopenia and camptodactyly
Y Rheumatoid Arthritis

 

 

If limiting this to RA of cervical spine, then perhaps also include?:

  • Rheumatoid arthritis of temporomandibular joint (disorder) 427770001
 

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) |


Include additional (not listed as children under Robin sequence)?:

  • Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) 725911008 aka TARP syndrome
  • Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) 429753001
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 | Multiplemalformationsyndrome, moderate short stature, facial (disorder) |
Stickler Syndrome


Scg expression
78675000 | Stickler syndrome (disorder) |



  Tracheal Stenosis


Scg expression
11296007 | Stenosis of trachea (disorder) |


I would favor including all children 

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) |


Include additional?:

  • 4p16.3 microduplication syndrome (disorder) 726706008 aka Distal trisomy 4p
    (or not since dysmorphic features described do not necessarily seem like difficult airway concerns – "high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears, and short neck."
  

Trisomy 8


Scg expression
205649008 | Trisomy 8 (disorder) |


Interestingly, "Trisomy 8" only has parent "Trisomy and partial trisomy of autosome"


There is another parent "Anomaly of chromosome pair 8 (disorder) 48082007" but it includes some minor mutations in chromosome 8 that may not manifest in severe enough symptoms to warrant difficult airway. If not including all children in 48082007, then perhaps include:

  • Complete trisomy 8 syndrome (disorder) 68454002
  • Deletion of part of chromosome 8 (disorder) 726378007 - case report in Korean J Anesthesiol 2011 61(4) describing difficult intubation due to macroglossia, short neck, high arched palate
  • Mosaic trisomy 8 syndrome (disorder) 717335009

  Trisomy 9


Scg expression
205650008 | Trisomy 9 (disorder) |


Similar to trisomy 8, "Trisomy 9" only has parent "Trisomy and partial trisomy of autosome."

There are additional parents:

  • Partial trisomy of chromosome 9 (disorder) 726348003
  • Anomaly of chromosome pair 9 (disorder) 5051002


There is a case report of laryngeal atresia with partial trisomy (Genet Couns 1991 2(2):83-91), but if not interested in partial trisomy, note there is another entry under 5051002 (similar to trisomy 8 above)

  • Complete trisomy 9 syndrome (disorder) 74350000
  Trisomy 13 (Patau Syndrome)


Scg expression
254268004 | Partial trisomy 13 in Patau's
Rheumatoid Arthritis

 

 

 

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 | Multiplemalformationsyndrome, 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-CollinsTrisomy 4p
Scg expression
82203000 | Treacher Collins syndrome (disorder) |
 

Child of big parent 65094009


Scg expression
4902400421111006 | 4pComplete partialtrisomy trisomy13 syndrome (disorder) |



  Trisomy 818 (Edwards Syndrome)


Scg expression
20564900851500006 | Complete trisomy Trisomy18 8syndrome (disorder) |
  Trisomy 9
Scg expression
205650008 | Trisomy 9 (disorder) |


Consider "Anomaly of chromosome pair 18 (disorder) 59033006?" Includes children:

  • Complete trisomy 18 syndrome (disorder) 51500006
  • Deletion of part of chromosome 18 (disorder) 726391008
  • Partial trisomy 18 in Edward's syndrome (disorder) 254266000
  • Partial trisomy of chromosome 18 (disorder) 726357009
  • Ring chromosome 18 syndrome (disorder) 88154004
  • Tetrasomy 18p (disorder) 698849002
  Trisomy 13 (Patau Syndrome)
Scg expression
254268004 | Partial trisomy 13 in Patau's syndrome (disorder) |
Scg expression21111006 | Complete trisomy 13 syndrome (disorder) |
  Trisomy 18 (Edwards Syndrome)22


Scg expression
51500006205655003 | CompleteTrisomy trisomy 1822 syndrome (disorder) |
  Trisomy 22


Similar to trisomy 8 and 9, "Trisomy 22" only has parent "Trisomy and partial trisomy of autosome."


Include additional:

  • Complete trisomy 22 syndrome (disorder) 71703005
  • Partial trisomy of chromosome 22 (disorder) 726362005
Scg expression205655003 | Trisomy 22 (disorder) |
  VACTERL


Scg expression
431395004 | Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) |


Include additional:

  • Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder) 719043002 aka VACTERL with hydrocephalus
  Vallecular Cyst


Scg expression
232410007 | Vallecular cyst (disorder) |



  Velocardiofacial Syndrome (Shprintzen Syndrome)


Scg expression
83092002 | Shprintzen syndrome (disorder) | 



  Weaver Syndrome


Scg expression
63119004 | Weaver syndrome (disorder) |


Include additional:

  • Weaver Williams syndrome (disorder) 726670008
  

 

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."

Note that OMIM does Acrocephalosyndactyly type II as a synonym, but for Apert Syndrome (which is confusing). Also see  Bissonnette B, Dalens BJ. Syndromes, rapid recognition and perioperative implications. McGraw-Hill Professional. (2006) ISBN:0071354557.


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

CRS 719796

Proposed parent is

Scg expression
74345006 | Congenital disorder due to abnormality of chromosome number OR structure (disorder) |
 


 

Add Concept

Hunter-Mcalpine Craniosynostosis Syndrome

OMIM 601379

ORPHA97340

CRS 719797

Proposed parent is

Scg expression
57219006 | Craniosynostosis syndrome (disorder) |


...