| A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | This updated list was uploaded to the EI Colorado website 9/1/22 | |||||||||||||||||||||||||
2 | Medical Diagnosis | Diagnosis Details | Established Condition? | Date Reviewed | ||||||||||||||||||||||
3 | 10q22.3q23.2 microdeletion | 10q22.3q23.2 microdeletion | Yes | 03/10/26 | ||||||||||||||||||||||
4 | 15q11.2 Deletion | 15q11.2 Deletion or Microdeletion | Yes | 02/06/25 | ||||||||||||||||||||||
5 | 16p11.2 Deletion | AKA Partial Deletion of Chromosome 16p | Yes | 12/09/20 | ||||||||||||||||||||||
6 | 1p36 Deletion | Chromosome 1p36 Deletion Syndrome | Yes | 12/09/20 | ||||||||||||||||||||||
7 | 1q21.1 microdeletion | Yes | 05/31/23 | |||||||||||||||||||||||
8 | 22q11 Deletion | AKA DiGeorge, Velocardiofacial, Deletion 22Q Syndrome | Yes | 12/09/20 | ||||||||||||||||||||||
9 | 2q31-2q36 duplication | Yes | 06/30/23 | |||||||||||||||||||||||
10 | 2q31.1 microdeletion syndrome | Yes | 03/12/26 | |||||||||||||||||||||||
11 | 3-Methylcrotonyl-Coenzyme A (CoA) Carboxylase Deficiency | No | 12/09/20 | |||||||||||||||||||||||
12 | 3rd Nerve Palsy | (aka: Third Nerve Palsy; Third Cranial Nerve Palsy; 3rd Cranial NervePalsy; Oculomotor Palsy; Oculomotor Nerve Palsy; Cranial Nerve III Palsy) | No | 12/09/20 | ||||||||||||||||||||||
13 | 4p- (Wolf Hirschhorn) | AKA Wolf-Hirchhorn Synd | Yes | 12/09/20 | ||||||||||||||||||||||
14 | 5p- (Cri du Chat) | Deletion 5p Syndrome (aka: Cri du chat Syndrome; Chromosome 5p-syndrome; Cat's Cry Syndrome; Chromosome 5, Monosomy 5p; Chromosome 5p-Syndrome; Le Jeune Syndrome; Partial Deletion of the Short Arm of Chromosome 5 Syndrome) | Yes | 12/09/20 | ||||||||||||||||||||||
15 | 5p duplication syndrome | Chromosome 5p duplication | Yes | 08/17/22 | ||||||||||||||||||||||
16 | 6q terminal deletion syndrome | Yes | 04/02/19 | |||||||||||||||||||||||
17 | 6th Nerve Palsy | (aka: Abducens palsy; Lateral rectus palsy; Cranial mononeuropathy VI) | No | 12/09/20 | ||||||||||||||||||||||
18 | 8p23.1 duplication | Yes | 07/21/26 | |||||||||||||||||||||||
19 | Aarskog-Scott Syndrome | No | 12/09/20 | |||||||||||||||||||||||
20 | Abnormal Neurological Exam at Discharge from NICU | No | 12/09/20 | |||||||||||||||||||||||
21 | Absent Septum Pellucidum | (aka: Absence Septum Pellucidum, Absent Cavum Septum Pellucidum) | No | 12/09/20 | ||||||||||||||||||||||
22 | Achondroplasia | Achondroplasia Dwarfism | No | 12/09/20 | ||||||||||||||||||||||
23 | Acid Sphingomyelinase Deficiency | (AKA Niemann-Pick Disease A & B) | Yes | 12/09/20 | ||||||||||||||||||||||
24 | Acute Lymphoid Leukemia | Acute Lymphoid Leukemia (aka: ALL; Leukemia) | No | 12/09/20 | ||||||||||||||||||||||
25 | 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) | No | 12/09/20 | ||||||||||||||||||||||
26 | Adjustment Disorder | DSM-5, ICD-10 Adjustment Disorder, Unspecified | Yes | 12/09/20 | ||||||||||||||||||||||
27 | Adrenal Hyperplasia, Congenital | AKA: 21 Hydroxylase Deficiency | No | 12/09/20 | ||||||||||||||||||||||
28 | Adrenal Hypoplasia | No | 12/09/20 | |||||||||||||||||||||||
29 | Adrenoleukodystrophy | Adrenoleukodystrophy (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... | No | 12/09/20 | ||||||||||||||||||||||
30 | Agenesis of Corpus Callosum | Agenesis of corpus callosum only | No | 9/22/22 | ||||||||||||||||||||||
31 | Agenesis of Corpus Callosum with somatic/CNS changes | Agenesis of corpus callosum plus somatic/CNS changes; ACC with somatic/CNS changes | Yes | 9/22/22 | ||||||||||||||||||||||
32 | Aicardi Syndrome | Aicardi 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 of the Corpus Callosum; Callosal Agenesis and Ocular Abnormalities) | Yes | 9/22/22 | ||||||||||||||||||||||
33 | Alagille Syndrome | No | 06/20/24 | |||||||||||||||||||||||
34 | Alcohol-Related Neurodevelopmental Disorder | (aka: ARND; Fetal Alcohol Spectrum Disorder; FASD) | No | 12/09/20 | ||||||||||||||||||||||
35 | Alexander Disease | Yes | 12/09/20 | |||||||||||||||||||||||
36 | Alper Disease | Alper 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 Cerebri Progressiva; Progressive Cerebral Poliodystrophy) | Yes | 12/09/20 | ||||||||||||||||||||||
37 | Alport Syndrome | (aka: Hematuria-Nephropathy Deafness; Hemorrhagic Familial Nephritis; Hereditary Deafness and Nephropathy; Hereditary Nephritis With Sensory Deafness; Hereditary Nephritis and Nerve Deafness) | No | 12/09/20 | ||||||||||||||||||||||
38 | Alstrom Syndrome | (aka: ALMS) | No | 12/09/20 | ||||||||||||||||||||||
39 | Amniotic Band Syndrome | No | 12/09/20 | |||||||||||||||||||||||
40 | Andersen-Tawil Syndrome | No | 12/09/20 | |||||||||||||||||||||||
41 | Anemia | No | 12/09/20 | |||||||||||||||||||||||
42 | Anencephaly | Anencephaly | Yes | 12/09/20 | ||||||||||||||||||||||
43 | Angelman Syndrome | Angelman Syndrome (aka: AS) | Yes | 12/09/20 | ||||||||||||||||||||||
44 | Anophthalmia, bilateral | Anophthalmia, bilateral | Yes | 12/09/20 | ||||||||||||||||||||||
45 | Anophthalmia, unilateral | No | 12/09/20 | |||||||||||||||||||||||
46 | Anoxic Insult to Brain | (aka anoxic brain injury) | No | 12/09/20 | ||||||||||||||||||||||
47 | Anterior Jaw Displacement | (aka: mandibular enlargement; prognathism) | No | 12/09/20 | ||||||||||||||||||||||
48 | Anterior Segment Dysgenesis | No | 12/09/20 | |||||||||||||||||||||||
49 | Apert Syndrome | Apert Syndrome (aka: ACS 1; ACS I; Acrocephalosyndactyly, Type I; Syndactylic Oxycephaly) | Yes | 12/09/20 | ||||||||||||||||||||||
50 | APGAR score of five or less at five minutes | No | 12/09/20 | |||||||||||||||||||||||
51 | Apraxia | Yes | 12/15/22 | |||||||||||||||||||||||
52 | Arachnoid Cyst | No | 12/09/20 | |||||||||||||||||||||||
53 | Argininosuccinic aciduria | Argininosuccinic aciduria (aka: Arginino Succinase Deficiency; ASA Deficiency; Argininosuccinate Lyase Deficiency; ASL Deficiency) | Yes | 12/09/20 | ||||||||||||||||||||||
54 | Arnold-Chiari Malformation | AKA: Chiari 1 malformation | No | 12/09/20 | ||||||||||||||||||||||
55 | Arthrogryposis | Arthrogryposis (aka: arthrogryposis multiplex congenita; AMC; multiple congenital contractures, Freeman Sheldon Syndrome, Gordon Syndrome) | Yes | 12/09/20 | ||||||||||||||||||||||
56 | Asphyxia w brain damage | Asphyxia | Yes | 12/09/20 | ||||||||||||||||||||||
57 | Asthma | No | 11/07/22 | |||||||||||||||||||||||
58 | Ataxia Telangiectasia | Ataxia Telangiectasia (aka: AT; Cerebello-Oculocutaneous Telangiectasia; Immunodeficiency with Ataxia Telangiectasia) | Yes | 12/09/20 | ||||||||||||||||||||||
59 | Auditory Neuropathy | (aka: Auditory neuropathy/auditory dyssynchrony; Auditory neuropathy/auditory dys-synchrony; AN/AD) | No | 12/09/20 | ||||||||||||||||||||||
60 | Aural Atresia, Bilateral or Unilateral | (aka: congenital aural atresia; CAA) | No | 12/09/20 | ||||||||||||||||||||||
61 | Autism Spectrum Disorder | Autism 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) | Yes | 12/09/20 | ||||||||||||||||||||||
62 | Baller Gerold Syndrome | Baller Gerold Syndrome (aka: Craniosynostosis with Radial Defects, Craniosynostosis-Radial Aplasia Syndrome) | Yes | 12/09/20 | ||||||||||||||||||||||
63 | Bannayan Riley Ruvalcaba | Bannayan 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-Smith syndrome; RMSS; Ruvalcaba Syndrome) | Yes | 12/09/20 | ||||||||||||||||||||||
64 | Baraitser-Winter Syndrome | Baraitser-Winter Syndrome | Yes | 02/14/25 | ||||||||||||||||||||||
65 | Bardet-Biedl Syndrome | Biedl-Bardet Syndrome; Laurence Moon-Biedl | Yes | 12/09/20 | ||||||||||||||||||||||
66 | Bartter's Syndrome | (aka: Hypokalemic Alkalosis with Hypercalciuria) | Yes | 12/09/20 | ||||||||||||||||||||||
67 | Beals Syndrome | (aka: Beals-Hecht Syndrome; Arachnodactyly, Contractural Beals Type; Contractural Arachnodactyly, Congenital; CCA) | No | 12/09/20 | ||||||||||||||||||||||
68 | 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... | No | 12/09/20 | ||||||||||||||||||||||
69 | Benign Enlargement of the Subarachnoid Space in infancy (aka: BESS) | No | 12/09/20 | |||||||||||||||||||||||
70 | Benign Hereditary Chorea | Benign Hereditary Chorea | No | 12/09/20 | ||||||||||||||||||||||
71 | Biliary Atresia | No | 12/09/20 | |||||||||||||||||||||||
72 | Bjornstad Syndrome | (aka: Deafness and Pili Torti, Bjornstad Type; Pili Torti and Nerve Deafness; Pili Torti-Sensorineural Hearing Loss) | No | 12/09/20 | ||||||||||||||||||||||
73 | Blue Diaper Syndrome | (aka: Drummond's Syndrome: Hypercalcemia, Familial, with Nephrocalcinosis and Indicanuria) | No | 12/09/20 | ||||||||||||||||||||||
74 | Borjeson Syndrome | Yes | 12/09/20 | |||||||||||||||||||||||
75 | Bowen Hutterite Syndrome | (aka:Bowen-Conradi Hutterite Syndrome, Bowen-Conradi Syndrome, Hutterite Syndrome, Bowen-Conradi Type) | No | 12/09/20 | ||||||||||||||||||||||
76 | 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... | No | 12/09/20 | ||||||||||||||||||||||
77 | Brain Tumor | Brain 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 region tumor; frontal lobe tumor) | Yes | 12/09/20 | ||||||||||||||||||||||
78 | 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) | No | 12/09/20 | ||||||||||||||||||||||
79 | Bronchopulmonary Dysplasia (BPD) | No | 12/09/20 | |||||||||||||||||||||||
80 | C Syndrome | C Syndrome (aka: Opitz Trigonocephaly Syndrome, Trigonocephaly "C" Syndrome, Trigonocephaly Syndrome) | Yes | 12/09/20 | ||||||||||||||||||||||
81 | Carboxylase Deficiency, Multiple | (aka: Biotinidase Deficiency, Carboxylase Deficiency, Multiple, Holocarboxylase Synthetase Deficiency, MCD) | No | 12/09/20 | ||||||||||||||||||||||
82 | Cardiofaciocutaneous Syndrome | Cardiofaciocutaneous syndrome (aka: CFC syndrome, Cardio-facial-cutaneous syndrome, Facio-cardio-cutaneous syndrome) | Yes | 12/09/20 | ||||||||||||||||||||||
83 | Carpenter Syndrome | (aka: ACPS II, Acrocephalopolysyndactyly Type II) | No | 12/09/20 | ||||||||||||||||||||||
84 | Cataracts, Congenital | No | 12/09/20 | |||||||||||||||||||||||
85 | 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) | No | 12/09/20 | ||||||||||||||||||||||
86 | Caudal Regression Syndrome | (aka: Caudal Dysplasia; Caudal Dysplasia Sequence; Sacral Agenesis, Congenital; Sacral Regression) | No | 12/09/20 | ||||||||||||||||||||||
87 | CDK13-related disorder | also known by the acronym CHDFIDD (Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder) | Yes | 06/16/26 | ||||||||||||||||||||||
88 | Cerebellar agenesis | Cerebellar Agenesis (aka: Cerebellar Aplasia; Cerebellar Hemiagenesis; Cerebellar Hypoplasia; Cerebellar Atrophy) | Yes | 12/09/20 | ||||||||||||||||||||||
89 | Cerebral Abscess | Cerebral abscess | No | 12/09/20 | ||||||||||||||||||||||
90 | Cerebral atrophy | Cerebral atrophy | Yes | 12/09/20 | ||||||||||||||||||||||
91 | Cerebral Bleed | (aka: intracerebral bleed, cerebral hemorrhage, intracerebral hemorrhage; parenchymal brain hemorrhage; periventricular hemorrhage) see Cerebral Bleed, Grade III & IV below (line 85), Intraventricular Hemorrhage (IVH) Grade I (line 357), or Intraventricular Hemorrhage, Grade II (line 358) for reference if needed | Yes | 12/09/20 | ||||||||||||||||||||||
92 | Cerebral Bleed, Grade III & IV | (aka: intracerebral bleed, cerebral hemorrhage, intracerebral hemorrhage; parenchymal brain hemorrhage; periventricular hemorrhage), IVH Grade III, IVH Grade IV. See Cerebral Bleed above (line 84), Intraventricular Hemorrhage (IVH) Grade I (line 357), or Intraventricular Hemorrhage, Grade II (line 358) for reference if needed for reference if needed | Yes | 12/09/20 | ||||||||||||||||||||||
93 | Cerebral Dysgenesis | Cerebral Dysgenesis | Yes | 12/09/20 | ||||||||||||||||||||||
94 | Cerebral Palsy | Cerebral 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... | Yes | 12/09/20 | ||||||||||||||||||||||
95 | Cerebrocostomandibular Syndrome | (aka: CCM Syndrome, CCMS, Rib Gap Defects with Micrognathia) | No | 12/09/20 | ||||||||||||||||||||||
96 | Cerebromalacia | Cerebromalacia (aka: Encephalomalacia) | Yes | 12/09/20 | ||||||||||||||||||||||
97 | CHAMP 1 | CHAMP 1 | Yes | 12/09/20 | ||||||||||||||||||||||
98 | Chandler's Syndrome | (aka: Dystrophia Endothelialis Cornea, Iris Atrophy with Corneal Edema and Glaucoma) | No | 12/09/20 | ||||||||||||||||||||||
99 | CHD7 | aka: CHARGE syndrome | Yes | 12/09/20 | ||||||||||||||||||||||
100 | Choanal Atresia (unilateral or bilateral) | No | 12/09/20 |