FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

725592009: congenitale membraneuze nefropathie door allo-immunisatie door maternale antistoffen tegen neutrale endopeptidase (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3444193010 Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3444194016 Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunisation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
12757531000146111 congenitale membraneuze nefropathie door allo-immunisatie door maternale antistoffen tegen neutrale endopeptidase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12757541000146115 congenitale membraneuze nefropathie door allo-immunisatie door maternale antistoffen tegen neutrale endopeptidase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12758141000146111 aangeboren membraneuze nefropathie door maternale anti-NEP iso-immunisatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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 Entire term case sensitive (core metadata concept) 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 alloimmunization (disorder) Is a Congenital disease (disorder) false Inferred relationship Some
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder) Is a Glomerular disease true Inferred relationship Some
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder) Finding site Glomerulus structure true Inferred relationship Some 1
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder) Is a Congenital nephropathy (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start