Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration. [ Orphanet:756 ]
Synonyms: pseudohypoaldosteronism type I autosomal recessive PHA1B PHA type 1
Term information
- Orphanet:756 (MONDO:equivalentTo)
- GARD:16545 (Orphanet:756)
- NCIT:C123251 (MONDO:equivalentTo)
- UMLS:C0268436 (Orphanet:756/e)
- ICD9:275.8 (MONDO:relatedTo)
- SCTID:43941006 (MONDO:equivalentTo)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare
http://linkedlifedata.com/resource/umls/id/C0268436
http://purl.obolibrary.org/obo/NCIT_C123251
http://www.orpha.net/ORDO/Orphanet_756
http://identifiers.org/snomedct/43941006