Get More Help in UtahOther 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 | Missing link with id: ee51af1d.xml |
| 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 | Missing link with id: ee51af1d.xml |
| 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 | Missing link with id: ee51af1d.xml |
| 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