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725592009: Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3444192017 Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3444193010 Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization en Synonym Active Case insensitive SNOMED CT core
3444194016 Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunisation en Synonym Active Case insensitive SNOMED CT core
3444195015 A glomerular disease with characteristics of severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life. The disorder has been described in 15 infants from 5 families originating from Portugal, the Netherlands, Italy, Germany and Morocco. The disease is a congenital disorder where infants present at birth with nephrotic syndrome, acute renal failure (oligoanuria and proteinuria), or both. Respiratory distress and hypertension are also observed during the first days of life. Some degree of dysmorphism may be observed in some cases. Mothers do not show any renal manifestations. Caused by the transplacental transfer of nephritogenic anti-NEP antibodies (IgG1, IgG4 subtypes) from mothers with truncating mutations of the MME gene (3q25.2; coding for NEP), resulting in a functional knockout of MME. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunisation Is a Congenital disease true Inferred relationship Some
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunisation Is a Glomerular disease true Inferred relationship Some
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunisation Occurrence Congenital true Inferred relationship Some 1
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunisation Finding site Glomerulus structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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