Kodex

Code

Q93.52

Phelan-McDermid syndrome

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Hierarchy

Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
- Q90-Q99 Chromosomal abnormalities, not elsewhere classified (Q90-Q99)
  - Q93 Monosomies and deletions from the autosomes, not elsewhere classified
    - Q93.5 Other deletions of part of a chromosome
      - Q93.51 Angelman syndrome
      - Q93.52 Phelan-McDermid syndrome
      - Q93.59 Other deletions of part of a chromosome

Notes

Codes from this chapter are not for use on maternal records

Inclusion Terms

Q93.52

22q13.3 deletion syndrome

Use Additional

Q93.52

code(s) to identify any associated conditions, such as:
autism spectrum disorder (F84.0)
- F84.0 Autistic disorder
degree of intellectual disabilities (F70-F79)
- F70-F79 Intellectual Disabilities (F70-F79)
G40 Epilepsy and recurrent seizures
lymphedema (I89.0)
- I89.0 Lymphedema, not elsewhere classified

Excludes 2

mitochondrial metabolic disorders (E88.4-)
- E88.4 Mitochondrial metabolism disorders

inborn errors of metabolism (E70-E88)
- E70-E88 Metabolic disorders (E70-E88)