FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725376010 Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725377018 Nephrotic syndrome, hearing loss, pretibial epidermolysis bullosa syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3725375014 Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725376010 Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725377018 Nephrotic syndrome, hearing loss, pretibial epidermolysis bullosa syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3432511001000113 Nephrotisches Syndrom-Epidermolysis bullosa-sensorineurale Schwerhörigkeit-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
916491000172119 syndrome néphrotique-surdité-épidermolyse bulleuse prétibiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
916491000172119 syndrome néphrotique-surdité-épidermolyse bulleuse prétibiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432511001000113 Nephrotisches Syndrom-Epidermolysis bullosa-sensorineurale Schwerhörigkeit-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
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Nephrotic syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Finding site Glomerulus structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Finding site Ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 5
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Hereditary nephritis true Inferred relationship Existential restriction modifier (core metadata concept)
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Associated morphology inflammation chronique false Inferred relationship Existential restriction modifier (core metadata concept) 1
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Interprets Albumin measurement (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Interprets Measurement of protein in urine (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a Disorder of ear true Inferred relationship Existential restriction modifier (core metadata concept)
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Associated morphology Chronic inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start