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721076000: Siegler Brewer Carey syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3323375017 Siegler Brewer Carey syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323376016 Siegler Brewer Carey syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402583013 A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402584019 A rare, syndromic, genetic respiratory disease characterised by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotaemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992. 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
Siegler Brewer Carey syndrome (disorder) Is a Chronic disease of respiratory system true Inferred relationship Some
Siegler Brewer Carey syndrome (disorder) Is a Congenital cataract true Inferred relationship Some
Siegler Brewer Carey syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Siegler Brewer Carey syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Siegler Brewer Carey syndrome (disorder) Is a Chronic infectious disease true Inferred relationship Some
Siegler Brewer Carey syndrome (disorder) Is a Respiratory tract infection true Inferred relationship Some
Siegler Brewer Carey syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Siegler Brewer Carey syndrome (disorder) Finding site Structure of respiratory system (body structure) true Inferred relationship Some 2
Siegler Brewer Carey syndrome (disorder) Pathological process (attribute) Infectious process (qualifier value) true Inferred relationship Some 2
Siegler Brewer Carey syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Some 2
Siegler Brewer Carey syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Siegler Brewer Carey syndrome (disorder) Finding site Lens clear false Inferred relationship Some 2
Siegler Brewer Carey syndrome (disorder) Clinical course Chronic true Inferred relationship Some 3
Siegler Brewer Carey syndrome (disorder) Finding site Structure of respiratory system (body structure) false Inferred relationship Some 3
Siegler Brewer Carey syndrome (disorder) Pathological process (attribute) Infectious process (qualifier value) false Inferred relationship Some 3
Siegler Brewer Carey syndrome (disorder) Finding site Lens clear true Inferred relationship Some 1
Siegler Brewer Carey syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Siegler Brewer Carey syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Siegler Brewer Carey syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Siegler Brewer Carey syndrome (disorder) Associated morphology Cataract false Inferred relationship Some 2
Siegler Brewer Carey syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 1
Siegler Brewer Carey 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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