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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