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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 Reference Sets
3323375017 Siegler Brewer Carey syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3323376016 Siegler Brewer Carey syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3921211000052113 Siegler-Brewer-Careys syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

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 medfödd katarakt 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 (morphologic abnormality) 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

This concept is not in any reference sets

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