Medical Diagnosis
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Medical Diagnosis NameDiagnosis DetailsEstablished ConditionCreated Date
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3-Methylcrotonyl-Coenzyme A (CoA) Carboxylase DeficiencyNo1/24/2017
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3rd Nerve Palsy(aka: Third Nerve Palsy; Third Cranial Nerve Palsy; 3rd Cranial NervePalsy; Oculomotor Palsy; Oculomotor Nerve Palsy; Cranial Nerve III Palsy)No1/24/2017
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6th Nerve Palsy(aka: Abducens palsy; Lateral rectus palsy; Cranial mononeuropathy VI)No1/24/2017
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Aarskog-Scott syndromeNo1/24/2017
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Abnormal Neurological Exam at Discharge from NICUNo1/24/2017
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Absent Septum Pellucidum(aka: Absence Septum Pellucidum, Absent Cavum Septum Pellucidum)No1/24/2017
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Achondrogenesis IAchondrogenesis I (Parenti-Fraccaro)Yes1/24/2017
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Achondrogenesis IIAchondrogenesis II (Langer-Saldino)Yes1/24/2017
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AchondroplasiaNo1/24/2017
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Acrocallosal Synd, SchinzelAcrocallosal Syndrome, Schinzel Type (aka: Schinzel Acrocallosal Syndrome; Acrocallosal Syndrome, Schinzel Type; ACLS; ACS; Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation syndrome)Yes1/24/2017
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AcrodysostosisAcrodysostosis (aka: Arkless-Graham; Acrodysplasia; Maroteaux-Malamut; Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation Syndrome; PNM Syndrome)Yes1/24/2017
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Acute Lymphoid LeukemiaAcute Lymphoid Leukemia (aka: ALL; Leukemia)No6/22/2018
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Adams Oliver Syndrome(aka: AOS; Absence Defect of Limbs, Scalp, and Skull; Congenital Scalp Defects with Distal Limb Reduction Anomalies; Aplasia Cutis Congenita with Terminal Transverse Limb Defects)No1/24/2017
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Adjustment Disorder(as defined within DC:0-5, and diagnosed by specially-qualified professional)No1/24/2017
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Adrenal Hyperplasia, CongenitalAKA: 21 Hydroxylase DeficiencyNo6/21/2018
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Adrenal HypoplasiaNo6/21/2018
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AdrenoleukodystrophyAdrenoleukodystrophy (aka: ALD; AMN; X-ALD; Addison disease and cerebral sclerosis; Adrenomyeloneuropathy; Siemerling-creutzfeldt disease; Bronze schilder disease; Schilder Disease; Melanodermic Leukodystrophy; sudanophilic leukodystrophy; Pelizaeus Merz...Yes1/24/2017
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Agenesis of Corpus CallosumAgenesis of the Corpus Callosum (aka: Absence of the corpus callosum; Hypogenesis of the corpus callosum; Dysplastic corpus callosum)Yes1/24/2017
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Aicardi SyndAicardi Syndrome (aka: Agenesis of Corpus Callosum and Chorioretinal Abnormality; Agenesis of Corpus Callosum With Chorioretinitis Abnormality; Agenesis of Corpus Callosum With Infantile Spasms And Ocular Anomalies; Chorioretinal Anomalies with Agenesis ...Yes1/24/2017
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Alagille Syndrome(aka: AHD; Arteriohepatic Dysplasia; Cholestasis with Peripheral Pulmonary Stenosis; Syndromatic Hepatic Ductular Hypoplasia)No1/24/2017
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Albinism(aka Ocular Cutaneous Albinism, Oculocutaneous Albinism, Ocular Albinism)No1/24/2017
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Alcohol-Related Neurodevelopmental Disorder(aka: ARND; Fetal Alcohol Spectrum Disorder; FASD)No1/24/2017
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Alexander DiseaseAlexander DiseaseYes1/24/2017
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Allan Herndon SyndAllan Herndon Syndrome (aka: Allan-Herndon-Dudley Syndrome (AHDS); Allan-Herndon-Dudley Mental Retardation)Yes1/24/2017
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Alper DiseaseAlper Disease (aka: Alper's Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis; Alpers Progressive Infantile Poliodystrophy; Christensen's disease; Christensen-Krabbe disease; Diffuse Cerebral Degeneration in Infancy; Poliodystrophia Cer...Yes1/24/2017
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Alport Syndrome(aka: Hematuria-Nephropathy Deafness; Hemorrhagic Familial Nephritis; Hereditary Deafness and Nephropathy; Hereditary Nephritis With Sensory Deafness; Hereditary Nephritis and Nerve Deafness)No1/24/2017
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Alstrom Syndrome(aka: ALMS)No1/24/2017
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Amniotic Band Syndrome (affecting fetus or newborns)No1/24/2017
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Amputation of leg at hipAmputation of the leg at the hipYes1/24/2017
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AnemiaNo6/21/2018
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AnencephalyAnencephalyYes1/24/2017
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Angelman SyndAngelman Syndrome (aka: AS)Yes1/24/2017
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AniridiaNo1/24/2017
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Aniridia Cerebellar Ataxia MDAniridia Cerebellar Ataxia Mental Deficiency (aka: Gillespie syndrome; Aniridia, Partial-Cerebellar Ataxia-Oligophrenia; Aniridia-Cerebellar Ataxia-Mental Retardation)hrenia)Yes1/24/2017
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Anophthalmia, bilateralAnophthalmia, bilateralYes1/24/2017
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Anophthalmia, unilateralNo1/24/2017
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Anoxic Insult to Brain(aka anoxic brain injury)No1/24/2017
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Anterior Jaw Displacement(aka: mandibular enlargement; prognathism)No1/24/2017
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Anterior segment dysgenesisNo1/24/2017
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Anxiety Disorder Not Otherwise Specified (NOS)(as defined within DC:0-5, and diagnosed by specially-qualified professional)No1/24/2017
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Apert SyndApert Syndrome (aka: ACS 1; ACS I; Acrocephalosyndactyly, Type I; Syndactylic Oxycephaly)Yes1/24/2017
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APGAR score 3 or less @ 20 minAPGAR score of 3 or less at 20 minutesYes1/24/2017
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APGAR score of five or less at five minutesNo1/24/2017
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Aphasia w brain damageAphasia (with evidence of brain damage) (aka: aphemia with evidence of brain damage)Yes1/24/2017
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Arachnoid CystNo1/24/2017
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Argininosuccinic aciduriaArgininosuccinic aciduria (aka: Arginino Succinase Deficiency; ASA Deficiency; Argininosuccinate Lyase Deficiency; ASL Deficiency)Yes1/24/2017
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Arnold-Chiari MalformationAKA: Chiari 1 malformationNo1/24/2017
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ArthrogryposisArthrogryposis (aka: arthrogryposis multiplex congenita; AMC; multiple congenital contractures)Yes1/24/2017
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Asphyxia w brain damageAsphyxia (with evidence of brain damage within athe first couple days of the event)Yes1/24/2017
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Ataxia TelangiectasiaAtaxia Telangiectasia (aka: AT; Cerebello-Oculocutaneous Telangiectasia; Immunodeficiency with Ataxia Telangiectasia)Yes1/24/2017
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Auditory Neuropathy(aka: Auditory neuropathy/auditory dyssynchrony; Auditory neuropathy/auditory dys-synchrony; AN/AD)No1/24/2017
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Aural Atresia, Bilateral or Unilateral(aka: congenital aural atresia; CAA)No1/24/2017
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Autism Spectrum DisorderAutism Spectrum Disorder (aka: Infantile Autism; Kanner Syndrome; Autisitc Disorder; Asperger Syndrome; Asperger's Disorder; Pervasive Developmental Disorder; PDD; Pervasive Developmental Disorder-Not Otherwise Specified; PDD-NOS)Yes1/24/2017
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Baller Gerold SyndBaller Gerold Syndrome (aka: Craniosynostosis with Radial Defects, Craniosynostosis-Radial Aplasia Syndrome)Yes1/24/2017
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Bannayan Riley RuvalcabaBannayan Riley Ruvalcaba (aka: Bannayan Riley Ruvalcaba Syndrome; BRRS, Bannayan-Zonana syndrome (BZS); Macrocephaly, multiple lipomas, and hemangiomata; Macrocephaly, pseudopapilledema, and multiple hemangiomata; Riley-Smith syndrome; Ruvalcaba-Myhre-Sm...Yes1/24/2017
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Bardet-Biedl SyndBardet-Biedl Syndrome (aka: Biedl-Bardet Syndrome; Laurence Moon-Biedl)Yes1/24/2017
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Bartter SyndBartter's syndrome (aka: Hypokalemic Alkalosis with Hypercalciuria)Yes1/24/2017
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Batten DiseaseBatten Disease (aka: CLN3, JNCL, Neuronal Ceroid Lipofuscinosis, Juvenile, Spielmeyer-Sjogren Disease, Vogt-Spielmeyer Disease, or Vogt-Spielmeyer-Sjogren Disease)Yes1/24/2017
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Beals Syndrome(aka: Beals-Hecht Syndrome; Arachnodactyly, Contractural Beals Type; Contractural Arachnodactyly, Congenital; CCA)No1/24/2017
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Beckwith Wiedemann Syndrome(aka: BWS; Beckwith-Syndrome;Exomphalos-Macroglossia-Gigantism Syndrome; EMG Syndrome; Hypoglycemia with Macroglossia; Macroglossia-Omphalocele-Visceromegaly Syndrome; Omphalocele-Visceromegaly-Macroglossia Syndrome; Visceromegaly-Umbilical Hernia-Macrog...No1/24/2017
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Benign Enlargement of the Subarachnoid Space in infancy (aka: BESS)no6/22/2018
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Biliary AtresiaNo1/24/2017
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Bjornstad Syndrome(aka: Deafness and Pili Torti, Bjornstad Type; Pili Torti and Nerve Deafness; Pili Torti-Sensorineural Hearing Loss)No1/24/2017
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Blue Diaper Syndrome(aka: Drummond's Syndrome: Hypercalcemia, Familial, with Nephrocalcinosis and Indicanuria)No1/24/2017
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Borjeson SyndBorjeson Syndrome (aka: BORJ; Borjeson-Forssman-Lehmann Syndrome; BFLS)Yes1/24/2017
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Bowen Hutterite Syndrome(aka:Bowen-Conradi Hutterite Syndrome, Bowen-Conradi Syndrome, Hutterite Syndrome, Bowen-Conradi Type)No1/24/2017
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Brachial Plexus Palsy(aka: Duchenne's Paralysis, Duchenne-Erb Paralysis, Duchenne-Erb Syndrome, Erb's Paralysis, Erb-Duchenne Palsy, Erb-Duchenne Paralysis, Upper Brachial Plexus Palsy, Erb-Duchenne Type, or Upper Brachial Plexus Paralysis, Erb-Duchenne Type; Brachial Plexus...No1/24/2017
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Brain TumorBrain Tumor (aka: brain cancer; brain teratoma; glioma; astrocytoma; glioblastoma multiforme; ependymoma; oligodendroglioma; medulloblastoma; meningioma; Schwannoma; acoustic neuroma; craniopharyngioma; germ cell tumor of the brain; germinoma; pineal reg...Yes1/24/2017
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Branchio-oculo-facial syndrome(aka:BOFS, Branchiooculofacial Syndrome, Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome, Imperforate Nasolacrimal Duct, and Premature Aging Syndrome, Lip Pseudocleft-hemangiomatous Branchial Cyst Syndrome)No1/24/2017
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Bronchopulmonary Dysplasia (BPD)No1/24/2017
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C SyndC Syndrome (aka: Opitz Trigonocephaly Syndrome, Trigonocephaly "C" Syndrome, Trigonocephaly Syndrome)Yes1/24/2017
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Carboxylase Deficiency, Multiple(aka: Biotinidase Deficiency, Carboxylase Deficiency, Multiple, Holocarboxylase Synthetase Deficiency, MCD)No1/24/2017
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Cardiofaciocutaneous SyndCardiofaciocutaneous syndrome (aka: CFC syndrome, Cardio-facial-cutaneous syndrome, Facio-cardio-cutaneous syndrome)Yes1/24/2017
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Carpenter Syndrome(aka: ACPS II, Acrocephalopolysyndactyly Type II)No1/24/2017
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Cataracts, CongenitalNo1/24/2017
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Catel-Manzke Syndrome(aka: Catel-Manzke Type Palatodigital Syndrome, Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome, Index Finger Anomaly with Pierre Robin Syndrome, Pierre Robin Syndrome with Hyperphalangy and Clinodactyly)No1/24/2017
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Caudal Regression Syndrome(aka: Caudal Dysplasia; Caudal Dysplasia Sequence; Sacral Agenesis, Congenital; Sacral Regression)No1/24/2017
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Cerebellar agenesisCerebellar Agenesis (aka: Cerebellar Aplasia; Cerebellar Hemiagenesis; Cerebellar Hypoplasia; Cerebellar Atrophy)Yes1/24/2017
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Cerebral atrophyCerebral atrophyYes1/24/2017
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Cerebral Bleed(aka: intracerebral bleed, cerebral hemorrhage, intracerebral hemorrhage; parenchymal brain hemorrhage; periventricular hemorrhage)No1/24/2017
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Cerebral DysgenesisCerebral DysgenesisYes1/24/2017
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Cerebral PalsyCerebral Palsy (aka: Ataxia Cerebral Palsy,Athetoid Cerebral Palsy, Congenital Cerebral Palsy, Diplegia of Cerebral Palsy,Hemiparesis of Cerebral Palsy, Hemiplegia of Cerebral Palsy, Hemiplegia, Hemiparesis, Postnatal Cerebral Palsy, Quadriparesis, Quadr...Yes1/24/2017
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Cerebro Oculo Facio Skel SyndCerebro Oculo Facio Skeletal Syndrome (aka: COFS Syndrome, Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome type II, Pena Shokeir II Syndrome, Pena Shokeir Syndrome Type II)Yes1/24/2017
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Cerebrocostomandibular Syndrome(aka: CCM Syndrome, CCMS, Rib Gap Defects with Micrognathia)No1/24/2017
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CerebromalaciaCerebromalacia (aka: Encephalomalacia)Yes1/24/2017
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CHAMP 1Champ 1 gene mutationYes6/5/2017
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Chandler's Syndrome(aka: Dystrophia Endothelialis Cornea, Iris Atrophy with Corneal Edema and Glaucoma)No1/24/2017
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CHARGE SyndCHARGE Syndrome (aka: CHARGE Association)Yes1/24/2017
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Choanal Atresia (unilateral or bilateral)No1/24/2017
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Choroid Plexus CystNo1/24/2017
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Chrom 10, Monosomy 10pChromosome 10, Monosomy 10p (aka: 10p Deletion Syndrome (Partial); Chromosome 10, 10p- Partial; Chromosome 10, Partial Deletion (short arm))Yes1/24/2017
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Chrom 11, Partial Monosomy 11qChromosome 11, Partial Monosomy 11q (aka: 11q- Syndrome; Partial, Deletion 11q Syndrome, Partial; Distal 11q Monosomy; Distal 11q- Syndrome; JBS; Jacobsen Syndrome; Monosomy 11q, Partial; Partial Monosomy of Long Arm of Chromosome 11; 11q14 deletion; 11q21 deletion; 11q14-21 deletion)Yes1/24/2017
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Chrom 11, Partial Trisomy 11p14.3Chromosome 11, Partial Trisomy 11p14.3Yes6/21/2018
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Chrom 11, Partial Trisomy 11qChromosome 11, Partial Trisomy 11q (aka: 11q Partial Trisomy, Chromosome 11; Partial Trisomy 11q13-qter, Chromosome 11; Partial Trisomy 11q21-qter;, Chromosome 11; Partial Trisomy 11q23-qter; Distal Trisomy 11q; Partial Trisomy 11q; Trisomy 11q, Partial)Yes1/24/2017
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Chrom 12 DeletionChromosome 12 deletionYes1/24/2017
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Chrom 12 Partial TrisomyPartial Trisomy 12Yes1/24/2017
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Chrom 13, Partl Monosomy 13qChromosome 13, Partial Monosomy 13q (aka: 13q- Syndrome, Partial; Deletion 13q Syndrome, Partial; Monosomy 13q, Partial; Partial Monosomy of the Long Arm of Chromosome 13)Yes1/24/2017
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Chrom 14 DeletionChromosome 14 deletionYes1/24/2017
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Chrom 14 RingChromosome 14 Ring (aka: Ring 14; Ring Chromosome 14; r14)Yes1/24/2017
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