| children | - 22q11.2 deletion syndrome 767263007
- 46,XX disorder of sex development with anorectal anomalies syndrome 733622000
- 46,XX disorder of sex development with skeletal anomalies syndrome 733621007
- Abruzzo Erickson syndrome 718574003
- Ackerman syndrome 722280000
- Acrodysplasia scoliosis 773773006
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome 722281001
- Agenesis of corpus callosum and abnormal genitalia syndrome 763797003
- Aglossia-adactyly syndrome 205817005
- Alstrom syndrome 63702009
- Aniridia, ptosis, intellectual disability, familial obesity syndrome 720987001
- Aniridia, renal agenesis, psychomotor retardation syndrome 733116005
- Ankyloblepharon filiforme adnatum with imperforate anus syndrome 773770009
- Anonychia with microcephaly syndrome 720494009
- Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome 720495005
- Aplasia cutis with myopia syndrome 720499004
- Arteriohepatic dysplasia 31742004
- Arthrogryposis with renal dysfunction and cholestasis syndrome 720513002
- Ataxia, photosensitivity, short stature syndrome 773769008
- Auricular abnormality, cleft lip, ocular abnormality syndrome 725149008
- Axial mesodermal dysplasia spectrum 765755006
- Bamforth Lazarus syndrome 722375007
- Bardet-Biedl syndrome 5619004
- Biemond syndrome type 2 717887003
- Biemond's syndrome 205828009
- Bilateral microtia with deafness and cleft palate syndrome 717909004
- Boder syndrome 716180009
- Borjeson-Forssman-Lehmann syndrome 21634003
- Bosley Salih Alorainy syndrome 720567008
- Braddock syndrome 720575002
- Brain calcification Rajab type 720576001
- Branchial dysplasia, intellectual disability, inguinal hernia syndrome 732961003
- Branchiogenic deafness syndrome 717944002
- Branchiootic syndrome 764810000
- BRESEK syndrome 717945001
- C syndrome 715409005
- Cardiocranial syndrome Pfeiffer type 720606005
- Cardiospondylocarpofacial syndrome 720612000
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome 720634003
- Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 763344007
- Cerebro-costo-mandibular syndrome 51780007
- Cervical hypertrichosis and peripheral neuropathy syndrome 720852000
- CHARGE association 47535005
- Cholestasis with pigmentary retinopathy and cleft palate syndrome 720636001
- Chondrodysplasia with disorder of sex development syndrome 720851007
- CK syndrome 773329005
- Cleft palate with stapes fixation and oligodontia syndrome 719468005
- Cleft palate, large ears, small head syndrome 763130006
- Coffin-Siris syndrome 10007009
- Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome 764455002
- Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome 776204008
- Colobomatous microphthalmia, rhizomelic dysplasia syndrome 764942005
- Conductive deafness, ptosis, skeletal anomalies syndrome 763213001
- Congenital cataract with deafness and hypogonadism syndrome 722378009
- Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001
- Congenital deafness with labyrinthine aplasia, microtia and microdontia 702360007
- Congenital intrauterine infection-like syndrome 722390006
- Cooper Jabs syndrome 720748007
- Coxoauricular syndrome 732248005
- Craniofacial ulnar renal syndrome 720756005
- Craniolenticulosutural dysplasia 725100001
- Craniosynostosis and dental anomalies syndrome 773332008
- Craniosynostosis, anal anomaly, porokeratosis syndrome 720812002
- Crome syndrome 722381004
- Cross syndrome 17827007
- Deaf blind hypopigmentation syndrome Yemenite type 721084001
- Deafness, vitiligo, achalasia syndrome 733069009
- Developmental malformation, deafness, dystonia syndrome 721092005
- Diaphanospondylodysostosis 721094006
- Diaphragmatic defect, limb deficiency, skull defect syndrome 721095007
- Didymosis aplasticosebacea 774209001
- Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome 782737003
- Disorder of sex development with intellectual disability syndrome 719450007
- Dobrow syndrome 782940006
- DOORS syndrome 719800009
- Double uterus, hemivagina, renal agenesis syndrome 722431007
- Duane anomaly, myopathy, scoliosis syndrome 722432000
- Duhamel's syndrome 49096008
- Dyschondrosteosis and nephritis syndrome 722433005
- Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome 734017008
- Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004
- Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome 771179007
- Fallot complex with intellectual disability and growth delay syndrome 723336008
- Familial caudal dysgenesis 722493007
- FLOTCH syndrome 774065001
- Focal dermal hypoplasia 205573006
- Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome 765089003
- Galloway Mowat syndrome 721297008
- GEMSS syndrome 722450007
- Genitopalatocardiac syndrome 773749003
- Genitopatellar syndrome 702367005
- Gillespie syndrome 253176002
- Goldenhar syndrome 205418005
- Gomez Lopez Hernandez syndrome 722451006
- Haim Munk syndrome 719973009
- Hair defect with photosensitivity and intellectual disability syndrome 721007005
- Hanhart's syndrome 35031005
- Hirschsprung disease with nail hypoplasia and dysmorphism 721223002
- HIVEP2-related intellectual disability 765434008
- Holzgreve syndrome 783159001
- Hydrocephalus with obesity and hypogonadism syndrome 721231007
- Hydrocephalus, blue sclera, nephropathy syndrome 773280009
- Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome 721229003
- Hydrocephalus, tall stature, joint laxity syndrome 732926009
- Hypertelorism, preauricular sinus, punctual pits, deafness syndrome 773667003
- Hypogonadism with anosmia 93559003
- Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome 773673002
- Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome 733097003
- Imperforate oropharynx, costovertebral anomalies syndrome 771185000
- Intellectual disability Birk-Barel type 764861005
- Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome 722455002
- Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000
- Johanson-Blizzard syndrome 75979009
- Johnson neuroectodermal syndrome 721584005
- Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome 773626008
- Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005
- Kousseff syndrome 726083008
- Kundrat's syndrome 30278004
- Laurence-Moon syndrome 232059000
- LIG4 syndrome 724177005
- Lipodystrophy, intellectual disability, deafness syndrome 721973006
- Lowe Kohn Cohen syndrome 766249007
- Lowry MacLean syndrome 721974000
- Lymphedema hypoparathyroidism syndrome 721083007
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome 723366001
- MACS syndrome 723367005
- Male emopamil-binding protein disorder with neurological defect 782739000
- Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome 722459008
- Manitoba oculotrichoanal syndrome 703539006
- Marfanoid syndrome De Silva type 732262003
- Matthew Wood syndrome 722458000
- McCune Albright syndrome 726029005
- McKusick Kaufman syndrome 702407009
- Meacham syndrome 722461004
- Megacystis, microcolon, hypoperistalsis syndrome 253781004
- Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome 722036008
- Megalocornea with intellectual disability syndrome 733522005
- MEHMO syndrome 722037004
- Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome 733419006
- Microcephalic primordial dwarfism Toriello type 715482004
- Microcephalus cardiomyopathy syndrome 719380003
- Microcephalus with cardiac defect and lung malsegmentation syndrome 719379001
- Microcephalus, brain defect, spasticity, hypernatremia syndrome 770655004
- Microcephalus, glomerulonephritis, marfanoid habitus syndrome 733472005
- Microcephalus, lymphedema, chorioretinopathy syndrome 733604003
- Microcephaly, polymicrogyria, corpus callosum agenesis syndrome 773305003
- Microcephaly, seizure, intellectual disability, heart disease syndrome 723304001
- Microcephaly, thin corpus callosum, intellectual disability syndrome 770721009
- Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome 724139004
- Moore-Federman syndrome 72913007
- Mulibrey nanism syndrome 81604003
- Multiple malformation syndrome due to non-infectious environmental agents 57544002
- Multiple malformation syndrome with early overgrowth 48637007
- Multiple malformation syndrome with facial defects as major feature 65094009
- Multiple malformation syndrome with limb defect as major feature 41443008
- Multiple malformation syndrome with senile-like appearance 12674005
- Multiple malformation syndrome with unusual brain and/or neuromuscular findings 64162006
- Multiple malformation syndrome, moderate short stature, facial 77701002
- Multiple malformation syndrome, small stature, without skeletal dysplasia 41483000
- Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001
- Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome 773584001
- Myhre syndrome 699316006
- Nasopalpebral lipoma coloboma syndrome 723411003
- Native American myopathy 723439002
- Nephrosis, deafness, urinary tract, digital malformation syndrome 724092009
- Neuroectodermal melanolysosomal disease 724091002
- NPHP3-related Meckel-like syndrome 773737004
- Ochoa syndrome 236533008
- Oculoauricular syndrome Schorderet type 763815000
- Oculofaciocardiodental syndrome 699300009
- Oculopalatocerebral syndrome 722055008
- Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome 782945001
- Osteochondrodysplasia syndrome 105985007
- Pachygyria, intellectual disability, epilepsy syndrome 763861000
- PAGOD syndrome 722132007
- Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome 773497001
- Pectus excavatum, macrocephaly, dysplastic nails syndrome 763863002
- PELVIS syndrome 725138002
- Pentalogy of Cantrell 281587000
- Pericardial and diaphragmatic defect syndrome 724068001
- Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome 715506001
- Pili torti with developmental delay and neurological abnormality syndrome 716194005
- Poikiloderma, alopecia, retrognathism, cleft palate syndrome 771186004
- Polysyndactyly and cardiac malformation syndrome 724066002
- Pontine tegmental cap dysplasia 782884005
- Porencephaly, cerebellar hypoplasia, internal malformations syndrome 763821001
- Porencephaly, microcephaly, bilateral congenital cataract syndrome 773627004
- Port-wine nevi, mega cisterna magna, hydrocephalus syndrome 783701002
- Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome 763866005
- Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome 724064004
- Potocki-Shaffer syndrome 702346005
- Prader-Willi syndrome 89392001
- Prune belly syndrome with pulmonic stenosis, mental retardation and deafness 236529001
- Pseudoleprechaunism syndrome Patterson type 771262009
- RAB18 deficiency 772225005
- Renal caliceal diverticuli and deafness syndrome 782942003
- Renal hepatic pancreatic dysplasia 763891005
- RHYNS syndrome 723999009
- Richieri Costa-da Silva syndrome 782941005
- Rieger syndrome 47507006
- Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome 774150004
- Scalp defect postaxial polydactyly syndrome 726629006
- SCALP syndrome 774208009
- Schwartz-Jampel syndrome 29145002
- Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome 722114007
- Septo-optic dysplasia sequence 7611002
- SERKAL syndrome 723720008
- Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome 773400009
- Short stature, wormian bones, dextrocardia syndrome 763631006
- Shprintzen syndrome 83092002 removed: 2018-07-31
- Siegler Brewer Carey syndrome 721076000
- Smith-Magenis syndrome 401315004
- Spigelian hernia with cryptorchidism syndrome 773623000
- Spina bifida and hypospadias syndrome 763889002
- Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome 723612001
- Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome 723610009
- Spondylocostal dysostosis, hypospadias, intellectual disability syndrome 773578004
- Steroid dehydrogenase deficiency and dental anomaly syndrome 723583009
- Subaortic stenosis and short stature syndrome 783096008
- TARP syndrome 725911008
- Taurodontia with absent teeth and sparse hair syndrome 719945007
- Tetraamelia with multiple malformation syndrome 716249009
- Thoraco-abdominal enteric duplication 733628001
- Thymic, renal, anal, lung dysplasia syndrome 723555007
- Timothy syndrome type 1 699256006
- Torticollis, keloids, cryptorchidism, renal dysplasia syndrome 771266007
- Trigonocephaly, short stature, developmental delay syndrome 733066002
- Uveal coloboma with cleft lip and palate and intellectual disability syndrome 719042007
- VACTEL syndrome 6839008
- VACTERL syndrome with hydrocephalus 719043002
- Van den Bosch syndrome 733110004
- VATER association 27742002
- Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome 431395004
- Vici syndrome 719824001
- Waardenburg's syndrome 47434006
- X-linked cleft palate and ankyloglossia 766761000
- X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008
- X-linked intellectual disability Cabezas type 719811001
- X-linked intellectual disability Stocco Dos Santos type 718910006
- X-linked intellectual disability, craniofacioskeletal syndrome 773274001
- X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome 765471005
- XY type gonadal dysgenesis with associated anomalies syndrome 733605002
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