ICD-11 code : 7A42.1;
Preferred Label : Congenital central alveolar sleep-related hypoventilation;
ICD-11 definition : Congenital central alveolar hypoventilation syndrome (CCHS) is a disorder of autonomic
dysfunction, primarily the failure of automatic central control of breathing, caused
by a mutation of the PHOX2B gene. CCHS is characterised by hypoventilation, which
is worse during sleep than wakefulness. Onset is usually at birth, and CCHS most commonly
presents in an otherwise normal-appearing infant who is noted to have cyanosis, feeding
difficulties, hypotonia or, less commonly, central apnoea. Severity is related to
the specific mutation present. Individuals with milder variants of the disorder may
not present for clinical attention until adulthood. Note: A definitive diagnosis requires
demonstration of PHOX2B mutation and objective evidence based on polysomnography with
carbon dioxide (CO2) monitoring (by arterial, end-tidal or transcutaneous measures).;
ICD-11 synonym : Ondine's curse; Congenital central hypoventilation syndrome; CCHS - [Congenital central hypoventilation syndrome]; apnoea of newborn, due to congenital hypoventilation syndrome; Ondine syndrome;
ICD-11 acronym : CCHS;
Origin ID : 1750742010;
Automatic exact mappings (from CISMeF team)
- ICD-10 Mapping
- Validated automatic mappings to NTBT
Congenital central alveolar hypoventilation syndrome (CCHS) is a disorder of autonomic
dysfunction, primarily the failure of automatic central control of breathing, caused
by a mutation of the PHOX2B gene. CCHS is characterised by hypoventilation, which
is worse during sleep than wakefulness. Onset is usually at birth, and CCHS most commonly
presents in an otherwise normal-appearing infant who is noted to have cyanosis, feeding
difficulties, hypotonia or, less commonly, central apnoea. Severity is related to
the specific mutation present. Individuals with milder variants of the disorder may
not present for clinical attention until adulthood. Note: A definitive diagnosis requires
demonstration of PHOX2B mutation and objective evidence based on polysomnography with
carbon dioxide (CO2) monitoring (by arterial, end-tidal or transcutaneous measures).
