Other Names for Diagnoses & Conditions Alternative names for diagnoses and conditions modules found on the Medical Home Portal are alphabetically listed below. Links lead to diagnoses modules. Condition Names Diagnoses and Conditions Modules ACADM deficiency MCADD (Medium-Chain Acyl-CoA Dehydrogenase Deficiency) ACADVL deficiency VLCADD ADD Attention-Deficit/Hyperactivity Disorder (ADHD) Addiction Substance Use Disorders Adolescent obesity Obesity in Children Alcohol-related birth defect Fetal Alcohol Spectrum Disorders Alcohol-related neurodevelopmental disorder Fetal Alcohol Spectrum Disorders Alpha-galactosidase A deficiency Fabry Disease Anderson-Fabry disease Fabry Disease Angiokeratoma corporis diffusum Fabry Disease Angiokeratoma diffuse Fabry Disease Anterior horn cell disease Spinal Muscular Atrophy ARBD Fetal Alcohol Spectrum Disorders ARG1 deficiency Arginase Deficiency Argininemia Arginase Deficiency ARND Fetal Alcohol Spectrum Disorders ASD Autism Spectrum Disorder Attention deficit disorder Attention-Deficit/Hyperactivity Disorder (ADHD) Atypical Rett syndrome Rett Syndrome BCKD deficiency Maple Syrup Urine Disease (MSUD) Becker muscular dystrophy Duchenne & Becker Muscular Dystrophies Bonnevie-Ullrich-Turner syndrome Turner Syndrome Bourneville disease Tuberous Sclerosis Complex (TSC) Brachmann-de Lange syndrome Cornelia de Lange Syndrome Branched-chain ketoacid dehydrogenase deficiency Maple Syrup Urine Disease (MSUD) Branched-chain ketoaciduria Maple Syrup Urine Disease (MSUD) Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency MCADD (Medium-Chain Acyl-CoA Dehydrogenase Deficiency) CBS deficiency Homocystinuria (Classic) Ceramide trihexosidosis Fabry Disease Cervical injury Spinal Cord Injury CF Cystic Fibrosis Children in the child welfare system Foster Care Chronic daily headache Headache (Migraine & Chronic) Chronic motor tic disorder Tourette Syndrome Classic galactosemia Galactosemia Classic homocystinuria Homocystinuria (Classic) Classic PKU PKU and Pterin Defects Congenital myotonic muscular dystrophy Myotonic Muscular Dystrophy Type 1 Cystathionine beta-synthase deficiency Homocystinuria (Classic) Cystic fibrosis of the pancreas Cystic Fibrosis Deafness Hearing Loss and Deafness De Lange syndrome Cornelia de Lange Syndrome Dependence on drugs Substance Use Disorders DGS 22q11.2 Deletion Syndrome (FAQ) DiGeorge syndrome 22q11.2 Deletion Syndrome DM Myotonic Muscular Dystrophy Type 1 Duarte galactosemia Galactosemia Duchenne muscular dystrophy Duchenne & Becker Muscular Dystrophies Dystrophia myotonica Myotonic Muscular Dystrophy Type 1 Dystrophinopathy Duchenne & Becker Muscular Dystrophies Early term Premature Infant Follow-Up Extreme prematurity Premature Infant Follow-Up FAH deficiency Tyrosinemia Type 1 Fainting Syncope FAS Fetal Alcohol Spectrum Disorders FASD Fetal Alcohol Spectrum Disorders Fetal alcohol syndrome Fetal Alcohol Spectrum Disorders 47, XXY XXY (Klinefelter) Syndrome Fumarylacetoacetase deficiency Tyrosinemia Type 1 Fumarylacetoacetate hydrolase deficiency Tyrosinemia Type 1 FXS Fragile X Syndrome Galactokinase deficiency disease Galactosemia Galactose-1-phosphate uridyltransferase deficiency Galactosemia Galactosemia type I Galactosemia Galactosemia type II Galactosemia Galactosemia type III Galactosemia GALE deficiency Galactosemia GALK deficiency disease Galactosemia GALT deficiency Galactosemia Gender dysphoria Caring for Transgender & Gender-Diverse Youth Generalized nonconvulsive epilepsy Childhood Absence Epilepsy Gilles de la Tourettes syndrome Tourette Syndrome GLA deficiency Fabry Disease Gluten enteropathy Celiac Disease Gonadal dysgensis Turner Syndrome Hb S disease Sickle Cell Disease Hearing impairment Hearing Loss and Deafness Hemoglobin S disease Sickle Cell Disease Hepatorenal tyrosinemia Tyrosinemia Type 1 Hereditary infantile tyrosinemia Tyrosinemia Type 1 Hereditary tyrosinemia type 1 Tyrosinemia Type 1 Hurler-Scheie syndrome Mucopolysaccharidosis Type I (MPS 1) Hurler syndrome Mucopolysaccharidosis Type I (MPS 1) Hyperargininemia Arginase Deficiency Hyperphenylalaninemia PKU and Pterin Defects Hypsarrhythmia Infantile Spasms Intermediate muscular dystrophy Duchenne & Becker Muscular Dystrophies Kugelberg-Welander disease Spinal Muscular Atrophy Lightning spasms Infantile Spasms Long-chain acyl-CoA dehydrogenase deficiency LCHAD/TFP Deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency LCHAD/TFP Deficiency Lumbar injury Spinal Cord Injury Major depressive disorder Depression MCAD deficiency MCADD (Medium-Chain Acyl-CoA Dehydrogenase Deficiency) MCADH deficiency MCADD (Medium-Chain Acyl-CoA Dehydrogenase Deficiency) MECP2 disorder Rett Syndrome Medium-chain acyl-CoA dehydrogenase deficiency MCADD (Medium-Chain Acyl-CoA Dehydrogenase Deficiency) Medium-chain acyl-coenzyme A dehydrogenase deficiency MCADD (Medium-Chain Acyl-CoA Dehydrogenase Deficiency) Monosomy X Turner Syndrome Mosaic Down syndrome Down Syndrome Mucoviscidosis Cystic Fibrosis Multiple carboxylase deficiency, late onset Biotinidase Deficiency Myelodysplasia Spina Bifida Myelomeningocele Spina Bifida Myotonic dystrophy Myotonic Muscular Dystrophy Type 1 Neural tube defect Spina Bifida NF1 Neurofibromatosis Type 1 Orthostatic intolerance Postural Orthostatic Tachycardia Syndrome (POTS) Ovarian dysgenesis Turner Syndrome Overweight Obesity in Children Partial fetal alcohol syndrome Fetal Alcohol Spectrum Disorders Persistent daily headache Headache (Migraine & Chronic) Petit mal epilepsy Childhood Absence Epilepsy PFAS Fetal Alcohol Spectrum Disorders Phenylalanine hydroxylase deficiency PKU and Pterin Defects Phenylketonuria PKU and Pterin Defects Prader-Labhart-Willi syndrome Prader-Willi Syndrome Primary headache Headache (Migraine & Chronic) Pseudohypertrophic muscular dystrophy Duchenne & Becker Muscular Dystrophies Reactive airways disease Asthma RTT Rett Syndrome Sacral spine injury Spinal Cord Injury SCD Sickle Cell Disease Scheie syndrome Mucopolysaccharidosis Type I (MPS 1) Sex chromosome aneuploidy XXY (Klinefelter) Syndrome Shprintzen syndrome 22q11.2 Deletion Syndrome Sickle cell anemia Sickle Cell Disease Sickle cell disorders Sickle Cell Disease SMA Spinal Muscular Atrophy Static encephalopathy Intellectual Disability & Global Developmental Delay Status epilepticus Seizures/Epilepsy Steinert disease Myotonic Muscular Dystrophy Type 1 Substance abuse Substance Use Disorders TFP deficiency LCHAD/TFP Deficiency Thoracic injury Spinal Cord Injury Tourette disorder Tourette Syndrome Transformed migraine Headache (Migraine & Chronic) Translocation Down syndrome Down Syndrome Trifunctional protein deficiency LCHAD/TFP Deficiency Trisomy 21 Down Syndrome TS Tourette Syndrome TS Turner Syndrome Tyrosinosis Tyrosinemia Type 1 UDP-galactose-4-epimerase deficiency disease Galactosemia Ullrich-Turner syndrome Turner Syndrome Velocardiofacial syndrome 22q11.2 Deletion Syndrome Very long chain acyl-CoA dehydrogenase deficiency VLCADD Very low birth weight Premature Infant Follow-Up VLCAD deficiency VLCADD Von Recklinghausen's disease Neurofibromatosis Type 1 Werdnig-Hoffman disease Spinal Muscular Atrophy West syndrome Infantile Spasms XO syndrome Turner Syndrome XXY condition XXY (Klinefelter) Syndrome Authors & Reviewers Initial publication: October 2016; last update/revision: January 2020 Current Authors and Reviewers: Author: Dale-Marie Herring Authoring history 2016: first version: Dale-Marie HerringA AAuthor; CAContributing Author; SASenior Author; RReviewer
