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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

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 Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Finding site Ear structure false Inferred relationship Some 2
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 2
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Interprets Hearing true Inferred relationship Some 3
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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