Combined immunodeficiencies (D81)
Clinical Information
Biotinidase Deficiency - The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
Holocarboxylase Synthetase Deficiency - The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase).
Multiple Carboxylase Deficiency - A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
Instructional Notations
Type 1 Excludes
A type 1 excludes note is a pure excludes note. It means "NOT CODED HERE!" An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.
- autosomal recessive agammaglobulinemia Swiss type D80.0
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50–D89)
Certain disorders involving the immune mechanism (D80-D89)
D81 Combined immunodeficiencies
- D81.0 Severe combined immunodeficiency [SCID] with reticular dysgenesis
- D81.1 Severe combined immunodeficiency [SCID] with low T- and B-cell numbers
- D81.2 Severe combined immunodeficiency [SCID] with low or normal B-cell numbers
D81.3 Adenosine deaminase [ADA] deficiency
- D81.30 Adenosine deaminase deficiency, unspecified
- D81.31 Severe combined immunodeficiency due to adenosine deaminase deficiency
- D81.32 Adenosine deaminase 2 deficiency
- D81.39 Other adenosine deaminase deficiency
- D81.4 Nezelof's syndrome
- D81.5 Purine nucleoside phosphorylase [PNP] deficiency
- D81.6 Major histocompatibility complex class I deficiency
- D81.7 Major histocompatibility complex class II deficiency
D81.8 Other combined immunodeficiencies
D81.81 Biotin-dependent carboxylase deficiency
- D81.810 Biotinidase deficiency
- D81.818 Other biotin-dependent carboxylase deficiency
- D81.819 Biotin-dependent carboxylase deficiency, unspecified
- D81.82 Activated Phosphoinositide 3-kinase Delta Syndrome [APDS]
- D81.89 Other combined immunodeficiencies
- D81.9 Combined immunodeficiency, unspecified
Combined immunodeficiencies (D81)