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724092009: Nephrosis, deafness, urinary tract, digital malformation 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
3430563019 Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430564013 Nephrosis, deafness, urinary tract, digital malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430565014 Braun Bayer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403221019 A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403222014 A rare, genetic, multiple congenital anomalies syndrome characterised by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3430563019 Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430564013 Nephrosis, deafness, urinary tract, digital malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430565014 Braun Bayer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3430566010 Syndrome with characteristics of variable anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403221019 A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403222014 A rare, genetic, multiple congenital anomalies syndrome characterised by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3394871001000114 Nephrose-Schwerhörigkeit-Harnwegsanomalien-Fingerfehlbildungen-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3394871001000114 Nephrose-Schwerhörigkeit-Harnwegsanomalien-Fingerfehlbildungen-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
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 3
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a Developmental hereditary disorder 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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