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733453005: Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder)


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
3499459017 Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499460010 Congenital ILNEB (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499461014 Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499462019 Congenital nephrotic syndrome, epidermolysis bullosa, pulmonary disease syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403786011 A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toenail dystrophy and sparse hair. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499459017 Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499460010 Congenital ILNEB (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499461014 Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499462019 Congenital nephrotic syndrome, epidermolysis bullosa, pulmonary disease syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3500001019 A life-threatening multi organ disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. There is evidence this disease is caused by homozygous mutation in the ITGA3 gene on chromosome 17q21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403786011 A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toenail dystrophy and sparse hair. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3436591001000117 Interstitielle Lungenkrankheit-Nephrotisches Syndrom-Epidermolysis bullosa-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5491381000241111 syndrome néphrotique congénital, épidermolyse bulleuse, atteinte pulmonaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5491381000241111 syndrome néphrotique congénital, épidermolyse bulleuse, atteinte pulmonaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3436591001000117 Interstitielle Lungenkrankheit-Nephrotisches Syndrom-Epidermolysis bullosa-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a Congenital nephrotic syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a Interstitial lung disease true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a trouble multisytémique false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a Congenital connective tissue disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a Connective tissue hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Finding site Structure of interstitial tissue of lung true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Finding site Glomerulus structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a Nephrotic syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Interprets Albumin measurement (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Interprets Measurement of protein in urine (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a Respiratory condition of fetus OR newborn true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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