The below is not an exhaustive list. The ICD10 code for each condition is in parentheses. This list was last revised 1/1/2018.
Genetic and Metabolic Disorders
- Albinism (E70.30)
- Albright’s Hereditary Osteodystrophy (E20.1)
- Angelman Syndrome (Happy Puppet Syndrome) (Q93.5)
- Adrenoleukodystrophy (E71.529)
- Antley-Bixler Syndrome (Multisynostotic Osteodysgenesis, Craniosynostosis, Choanal Atresia, Radial Humeral Synostosis, Trapezoidocephaly-Multiple Synostosis Syndrome, ABS, Multisynostotic Osteodysgenesis with Long Bone Fractures) (Q87.5)
- Apert Syndrome (Acrocephalosyndactyly) (Q87.0
- Arthrogryposis Multiplex Congenita (Q74.3)
- Ataxia-Telangiectasia Syndrome (Louis-Bar Syndrome) (G11.3)
- Canavan Disease (E75.29)
- Cardio-Facio-Cutaneo Syndrome (Q87.89)
- Cerebral Lipidosis (E75.6)
- Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome (Q87.8)
- CHARGE Syndrome/Association (Q89.8)
- Chromosome Syndromes10p+, 13q+, 3q+, 4Q+ (Q92.5)
- Chromosome Syndromes 11p- (this one also called Jacobsen syndrome), 12p-, 13q-,18q-, 21q-, 22q-, , 4q-, (this is also Wolf-Hirschhorn syndrome) 5p- (already below as cri-du-chat syndrome) (Q93.89)
- Coffin-Lowry Syndrome (Q89.8)
- Coffin-Siris Syndrome (Q03.1)
- Cornelia de Lange Syndrome (Brachmann de Lange) (Q87.1)
- Cri-du-chat Syndrome (Deletion 5p Syndrome) (Q93.4)
- Cystic Fibrosis (E84.0)
- Dandy Walker Syndrome (Q03.1)
- Down Syndrome (Trisomy 21) (Q90.9)
- Duchenne Muscular Dystrophy (G71.0)
- Dyggve-Melchior-Clausen Syndrome (DMC Disease, DMC Syndrome, Smith-McCort Dysplasia) (Q77.7)
- Fragile X Syndrome (Q99.2)
- Fraser Syndrome (Cryptophthalmos Syndrome, Meyer-Schwickerath’s syndrome, Fraser-Francois syndrome, Ullrich-Feichtiger syndrome) (Q87.0)
- Galactosemia (E74.21)
- Gaucher Syndrome (Glucosylceramide storage disease; GSDI) (E75.22)
- Glutaric Aciduria
- Type I (E72.3)
- Type II (E71.313)
- Glycogen Storage Disease (E74.00)
- Jeune Syndrome (Q77.2)
- Joubert Syndrome (Q03.1)
- Krabbe’s disease (E75.23)
- Lesch-Nyhan Syndrome (E79.1)
- Lissencephaly Syndrome (Miller-Dieker Syndrome, Agyria) (Q93.88)
- Maple Syrup Urine (E71.0)
- Mucolipidosis II, III (E77.0)
- Organic Acidemias (E71.121)
- Pelizaeus-Merzbacher disease (E75.29)
- Peroxisomal Disorders (E71.5)
- Phenylketonuria (PKU) (E70.0)
- Phelan-McDermid syndrome (Q93.0)
- Rubenstein-Taybi Syndrome (Q87.2)
- Schwartz-Jampel Syndrome (G71.13)
- Prader-Willi Syndrome (Q87.1)
- Steinert Myotonic Dystrophy Syndrome (Curschmann-Batten-Steinert syndrome) (G71.11)
- Tay-Sachs disease (Sandhoff) (E75.02)
- Trisomy 8 (Q92.9)
- Trisomy 9 (Q92.9)
- Tetrasomy 12p (Q99.8)
- Trisomy 13 (Patau Syndrome) (Q91.7)
- Trisomy 18 (Edward’s Syndrome) (Q91.3)
- Tuberous Sclerosis Complex (Q85.1)
- Urea Cycle Defect (E72.20)
- Very long chain fatty acid storage diseases (E71.310)
- Walker-Warburg Syndrome (XO) (G71.2)
- Williams Syndrome (Q99.8)
- Zellweger Syndrome (Cerebro-Hepato-Renal Syndrome) (Q87.89)
Neurological Disorders
- Agyria (Miller-Dieker lissencephaly syndrome (MDLS), agyria syndrome, agyriapachygyria syndrome, classical lissencephaly) (Q04.3)
- Aicardi Syndrome (Q04.0)
- Alpers Syndrome/Disease (G31.81)
- Aphasia (R47.01)
- Arachnoid cyst with Neuro-Developmental Delay (G93.0)
- Arhinencephaly (Q04.1)
- (Holoprosencephaly) (Q04.2)
- Arnold-Chiari Syndrome, type II (Malformation d’Arnold-Chiari) (Q07.00)
- Ataxia (R27.0)
- Cerebral Palsy (G80.9)
- Cerebral Aneurysm with Neuro-Developmental Delay (I67.1)
- CNS Tumor with Neuro- Developmental Delay (D49.7)
- Encephalopathy, Congenital Only (G93.40)
- Encephalopathy, Static (G93.40)
- Erb’s Palsy (Brachial Plexus Injury, Perinatal Origin) (P14.0)
- Extracorporeal Membrane Oxygenation (ECMO) (Z92.81)
- Holoprosencephaly (Q04.2)
- Hypertonia (persistent only) (P94.1)
- Hypoxic Ischemic Encephalopathy (HIE) (P91.60)
- Lennox-Gastaut Syndrome (G40.812)
- Intracranial Calcifications (93.89)
- Intraventricular Hemorrhage
- Grade 3 (P52.21)
- Grade 4 (P52.22)
- Meningocele (cervical) (Q05.5)
- Microcephaly (Q02)
- Miller-Dieker Syndrome (Q93.88)
- Mitochondrial Disorder (E88.40)
- Multiple Anomalies of the Brain (Q04.9)
- Myopathy (G72.89)
- Neonatal/Perinatal Asphyxia (5 minute Apgar score of 6 or less, Cord PH < 7, Evidence of Central Nervous System involvement, Organ failure, Resuscitation) (P84)
- Periventricular Leukomalacia (PVL) (91.2)
- Spina Bifida (Q05.9)
- Spinocerebellar Disorders (G11.8)
Severe Attachment Disorders
- Anxiety Disorders of Infancy and Early Childhood (F41.1)
- Depression of Infancy and Early Childhood (F33.40)
- Infantile Anorexia (R63.0)
Autism Spectrum Disorders
- Asperger’s Disorder (F84.5)
- Autism Spectrum Disorder (F84.0)
- Pervasive Developmental Disorder (F84.9)
- Rett’s Syndrome (F84.2)
Significant Sensory Impairment
- Auditory Neuropathy (H93.299)
- Aural Atresia (bilateral or unilateral) (Q16.1)
- Blindness (“legal” blindness or 20/200 best acuity with correction) (H54.8)
- Optic Nerve Hypoplasia (De Morsier’s Syndrome) (H47.039)
- Septo Optic Dysplasia (Q04.4)
- Retinopathy of Prematurity Stage III and/or IV (ROP)
- Stage 3 unspecified (H35.149)
- Bilateral (H35.143)
- Left eye (H35.142)
- Right eye (H35.141)
- Stage 4 unspecified (H35.159)
- Bilateral (H35.153)
- Left eye (H35.152)
- Right eye (H35.151)
- Stage 5 unspecified (H35.169)
- Bilateral (H35.163)
- Left eye (H35.162)
- Right eye (H35.161)
- Stage 3 unspecified (H35.149)
- Sensorineural hearing loss in excess of 25 dB HL (H90.5)
Other
- Fetal Alcohol Syndrome (Q86.0)
- Hydrocephalus (congenital or acquired) (G91.9)
- Lead Poisoning (R78.71)
- Low Birth Weight (<1,200 grams at birth) (P07.00)
- Zika Confirmed Congenital with Symptoms (A92.5)
- Zika Confirmed Congenital No Symptoms (A92.5)
- Zika Probable Congenital with Symptoms (A92.5)
- Zika Probable Congenital No Symptoms (A92.5)