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721076000: Siegler Brewer Carey syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3323376016 Siegler Brewer Carey syndrome en Synonym Active Case sensitive SNOMED CT core
3323377013 Syndrome that is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection and failure to thrive. It has been recently described in two siblings born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. en Definition Active Case sensitive SNOMED CT core
3323378015 Syndrome that is characterised by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection and failure to thrive. It has been recently described in two siblings born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotaemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Siegler Brewer Carey syndrome Finding site Structure of lens of eye true Inferred relationship Some 1
Siegler Brewer Carey syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Siegler Brewer Carey syndrome Occurrence Congenital true Inferred relationship Some 1
Siegler Brewer Carey syndrome Pathological process Pathological developmental process false Inferred relationship Some 2
Siegler Brewer Carey syndrome Associated morphology Cataract false Inferred relationship Some 2
Siegler Brewer Carey syndrome Associated morphology Abnormally opaque structure true Inferred relationship Some 1
Siegler Brewer Carey syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Siegler Brewer Carey syndrome Is a Chronic disease of respiratory system true Inferred relationship Some
Siegler Brewer Carey syndrome Is a Congenital cataract true Inferred relationship Some
Siegler Brewer Carey syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Siegler Brewer Carey syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Siegler Brewer Carey syndrome Is a Chronic infectious disease true Inferred relationship Some
Siegler Brewer Carey syndrome Is a Respiratory tract infection true Inferred relationship Some
Siegler Brewer Carey syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Siegler Brewer Carey syndrome Finding site Structure of respiratory system true Inferred relationship Some 2
Siegler Brewer Carey syndrome Pathological process Infectious process true Inferred relationship Some 2
Siegler Brewer Carey syndrome Associated morphology Congenital cataract false Inferred relationship Some 2
Siegler Brewer Carey syndrome Occurrence Congenital false Inferred relationship Some 2
Siegler Brewer Carey syndrome Finding site Structure of lens of eye false Inferred relationship Some 2
Siegler Brewer Carey syndrome Clinical course Chronic true Inferred relationship Some 3
Siegler Brewer Carey syndrome Finding site Structure of respiratory system false Inferred relationship Some 3
Siegler Brewer Carey syndrome Pathological process Infectious process false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Problem/Diagnosis reference set

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