3HMG	3-Hydroxy-3-methylglutaric aciduria
3MCC	3-Methylcrotonyl-CoA carboxylase deficiency/3-Methylglutacon aciduria/2-methyl-3-OH-butyric aciduria
AAD	Disorders of amino acid metabolism
x-ALD	x-Adrenoleukodystrophy
ARG	Argininemia
ASA	Argininosuccinic aciduria
BIO	Biotinidase deficiency
BKT	Beta-ketothiolase deficiency
CACT	Carnitine acylcarnitine translocase deficiency
CAH	Congenital adrenal hyperplasia
CF	Cystic fibrosis
CFTR	cystic fibrosis transmembrane conductance regulator
CH	(primary) Congenital hypothyroidism
CIT1	Citrullinaemia type I
CIT2	Citrullinaemia type II
CPT1	Carnitine palmitoyltransferase deficiency type I
CPT2	Carnitine palmitoyltransferase type II-/Carnitine acylcarnitine transporter deficiency
CUD	Carnitine uptake defect
E-HOD	European Registry and Network for Homocystinurias and Methylation Defects
E-IMD	European Registry and Network for Intoxication type Metabolic Diseases
ESID	European Society for Immunodeficiencies
EUNENBS	European Network of Experts on Newborn Screening
EURORDIS	European Organisation for Rare Diseases
FAOD	Disorders of fatty acid metabolism
G6PD	Glucose-6-phophate dehydrogenase deficiency
GA1	Glutaric acidaemia type I
GA2	Glutaric acidaemia type II or multiple acyl coA dehydrogenase deficiency
GAL	Classical galactosaemia
GALK	Galactose kinase deficiency
HCY	Homocystinuria (CBS deficiency)
HCSD	Holocarboxylase synthetase deficiency
Hemo	Haemoglobinopathies
HPLC	High performance liquid chromatography
IPOPI	International Patient Organization for Primary Immunodeficiencies
IVA	Isovaleric acidaemia (IVA)/2-Methylbutyrylglycinuria
LCHAD	Long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency/Trifunctional protein deficiency
LSD	Lysosomal storage disorder
M	Miscellaneous disorders
MAT I/III	Methionine adenosyl transferase I/III deficiency
MCAD	Medium-chain acyl-CoA dehydrogenase deficiency
MCD	Multiple carboxylase deficiency
MMA	Methylmalonic acidaemia
MSUD	Maple Syrup Urine Disease
NBS	Neonatal (Newborn) Screening
NGS	Next generation sequencing
OA	Disorders of organic acid metabolism
PA	Propionic acidaemia
PKU/HPA	Phenylketonuria/Hyperphenylalaninaemia
RMD	Remethylation disorders (methylenetetrahydrofolate reductase, methylcobalamine deficiencies)
SCD	Sickle cell disease/thalassemia
SCID	Severe Combined Immunodeficiencies
SCAD	Short-chain acyl-CoA dehydrogenase deficiency
SMA	Spinal muscular atrophy
TFP	Trifunctional protein deficiency
TYR1	Tyrosinaemia type 1
TYR2	Tyrosinaemia type 2
UDP	UDP-galactose-4-epimerase deficiency
UK	United Kingdom
VLCAD	Very long-chain acyl-CoA dehydrogenase deficiency