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773647007: Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3725375014 Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome en Synonym Active Case insensitive SNOMED CT core
3725376010 Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3725377018 Nephrotic syndrome, hearing loss, pretibial epidermolysis bullosa syndrome en Synonym Active Case insensitive SNOMED CT core
3725378011 A rare genetic renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene. en Definition Active Case sensitive SNOMED CT core
3725379015 A rare genetic renal disease characterised by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anaemia due to beta-thalassaemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Nephrotic syndrome true Inferred relationship Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Finding site Glomerulus structure true Inferred relationship Some 1
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Finding site Ear structure true Inferred relationship Some 4
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Interprets Hearing true Inferred relationship Some 5
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Hereditary nephritis true Inferred relationship Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Associated morphology Chronic inflammation true Inferred relationship Some 1
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Sensorineural hearing loss true Inferred relationship Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Has interpretation Below reference range true Inferred relationship Some 3
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Has interpretation Above reference range true Inferred relationship Some 2
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Interprets Albumin measurement true Inferred relationship Some 3
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Interprets Urine protein measurement true Inferred relationship Some 2
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Disorder of ear true Inferred relationship Some

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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