ICD-11 code : GB90.41;
Preferred Label : Pseudohypoaldosteronism type 1;
ICD-11 definition : Pseudohypoaldosteronism type 1 (PHA1) are rare forms of mineralocorticoid resistance.
PHA1 presents in the newborn with renal salt wasting, failure to thrive and dehydration.
Two clinical forms have been described: i) a renal form (renal PHA1) that improves
with age and in which mineralocorticoid resistance is restricted to the kidney, and
ii) a generalized severe form (generalized PHA1) that persists into adulthood and
in which mineralocorticoid resistance is systemic and salt loss occurs in multiple
organs. Inheritance can be autosomal recessive (arPHA1) which is more severe and persistent
than the autosomal dominant form (AdPHA1);
Origin ID : 1576878036;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- ICD-10 Mapping
Pseudohypoaldosteronism type 1 (PHA1) are rare forms of mineralocorticoid resistance.
PHA1 presents in the newborn with renal salt wasting, failure to thrive and dehydration.
Two clinical forms have been described: i) a renal form (renal PHA1) that improves
with age and in which mineralocorticoid resistance is restricted to the kidney, and
ii) a generalized severe form (generalized PHA1) that persists into adulthood and
in which mineralocorticoid resistance is systemic and salt loss occurs in multiple
organs. Inheritance can be autosomal recessive (arPHA1) which is more severe and persistent
than the autosomal dominant form (AdPHA1)
