...
A thought - we could list specific SNOMED concepts, and for some concepts mark them as "also include all children." Then from that list we generate a flattened final refset.
Are all the children of these concepts indicators of difficult airways? Some of them?
Scg expression |
---|
Disorder / Synonyms | SCTID | YMC notes | Include 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)"? |
Arthrogryposis
Freeman Sheldon Syndrome
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
| |
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 limbsInstead we should use the more specific variants here. Also requests were submitted to improve the modeling. | | 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 |
|
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 hypothyroidismDoes this condition require goiter to be a difficult airway?
See also:278503003Congenitalhypothyroidismwithdiffusegoiter (disorder) |Congenital lingual tumor | Scg expression |
127229000 | Neoplasm of lingual tonsilatresia, 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 |
It probably doesn't matter if the tumor is congenital to be a difficult airway. | | |
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? 42712003 | Y | |
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? - 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? - 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? - Congenital dystrophia brevicollis (disorder) 388981000 aka Bonnevie-Ullrich and Klippel-Feil syndrome
| Y | |
Laryngeal Cleft | | Parent: - Congenital cleft larynx (disorder) 232461002
-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
- Congenital web of larynx (disorder) 47070001
- Subglottic web (disorder) 444921008
| Y | Include all children? |
Laryngeal Hemangioma |
Scg expression |
---|
703199001 | Laryngotracheal hemangioma (disorder) | |
| Shouldn't "subglottic hemangioma" and "laryngeal hemangioma" 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 (disorder) | |
|
| Y | |
Lipoid Proteinosis |
Scg expression |
---|
38692000 | Lipid proteinosis (disorder) | |
|
| Y | |
Microstomia |
Scg expression |
---|
14582003 | Microstomia |
|
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 syndromeCystic Hygroma399882002 | Cystic hygroma (disorder) | |
Y | | DiGeorge Sequence (22Q Deletion)429753001 | Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) | |
| Include additional parent? - Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) 724174003
| Y | Another 65094009 child |
Neurofibromatosis Type 1 | |
7712800381669005 | Neurofibromatosis |
|
DiGeorgesequence (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. | | 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) | 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 |
|
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 dystrophyEpidermolysis Bullosa61003004EpidermolysisbullosaY | | 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 | | 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 |
|
Scg expression |
703199001 | Laryngotracheal hemangiomaLi-Fraumeni Syndrome | 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) | ? | |
Smith-Lemli-Opitz syndrome (disorder) | |
428850001LiFraumeniOpitz syndrome (disorder) | |
|
| |
Y | | Child of 77701002 | Multiplemalformationsyndrome, moderate short stature, facial (disorder) | |
Stickler Syndrome |
Lipoid Proteinosis38692000LipidproteinosisYMicrostomia14582003MicrostomiaY | I would favor including all children | |
Moebius SyndromeInclude all children? |
Treacher-Collins | |
429753001Congenitalnonprogressive myopathy with Moebius and Robin sequencesCollins syndrome (disorder) | |
|
Y | Another 65094009 child | |
| | Child of big parent 65094009 |
Trisomy 4p |
Neurofibromatosis Type 181669005 Neurofibromatosis 4p partial trisomy syndrome ( |
|
morphologic abnormalityY | Do most patients with NF have a difficult airway? Both Type 1 and Type 2? | | 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 |
Noonan's Syndrome | Scg expression |
---|
205824006 | Noonan's syndrome (disorder) | |
| Y | |
Prader Willi Syndrome89392001Prader-WillisyndromeY | | 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 | |
| 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 |
|
Rubinstein-Taybi Syndrome | Scg expression |
45582004 | Rubinstein-Taybi syndromeY | | 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 |
| 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 |
|
Trisomy 4p | Scg expression |
49024004 | 4p partial trisomy | | Trisomy 820564900821111006 | Complete trisomy |
|
Trisomy8 920565000851500006 | Complete trisomy |
|
Trisomy9 | | Trisomy 13 (Patau Syndrome) | Scg expression |
---|
254268004 | Partial trisomy 13 in Patau's syndrome (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
|
Scg expression |
21111006 | Complete trisomy 13 syndrome (disorder) | 18 (Edwards Syndrome)51500006Complete trisomy 18 syndrome | | Trisomy 22 | Scg expression |
205655003 | Trisomy 22 (disorder) | | 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
| | |
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 | |
expressionexpression |
---|
63119004 | Weaver syndrome (disorder) | |
| Include additional: - Weaver Williams syndrome (disorder) 726670008
|
63119004 | Weaver syndrome (disorder) |...