Nephronophthisis (Q46420): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Doença autossômica recessiva caracterizada por poliúria, polidipsia, enurese e doença renal crônica com insuficiência renal terminal ocorrendo entre o nascimento e o final da adolescência, dependendo do gene NPHP envolvido. As manifestações extra-renais ocorrem com transtornos genéticos multissistêmicos associados (p. ex., Senior-Loken, Cogan, Joubert)
@@ description / en / description / en @@
+Autosomal recessive disease characterised by polyuria, polydipsia, enuresis and chronic kidney disease with end stage renal failure occurring between birth and late adolescence depending on the NPHP gene involved. Extra-renal manifestations occur with associated multisystem genetic disorders (e.g. Senior-Loken, Cogan, Joubert)
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/158151813
@@ Property / Canonical URI: https://id.who.int/icd/entity/158151813 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:GB83
@@ Property / CURIE: CID11:GB83 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-GB83
@@ Property / Canary Token: dki-india-GB83 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank
@@ Property / Linked ICD 10 @@
+ICD I820
@@ Property / Linked ICD 10: ICD I820 / rank @@
+Normal rank

Latest revision as of 14:59, 13 August 2026

Autosomal recessive disease characterised by polyuria, polydipsia, enuresis and chronic kidney disease with end stage renal failure occurring between birth and late adolescence depending on the NPHP gene involved. Extra-renal manifestations occur with associated multisystem genetic disorders (e.g. Senior-Loken, Cogan, Joubert)

Language	Label	Description	Also known as
default for all languages	GB83
English	Nephronophthisis	Autosomal recessive disease characterised by polyuria, polydipsia, enuresis and chronic kidney disease with end stage renal failure occurring between birth and late adolescence depending on the NPHP gene involved. Extra-renal manifestations occur with associated multisystem genetic disorders (e.g. Senior-Loken, Cogan, Joubert)