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773662009: maladie inflammatoire intestinale et cutanée néonatale (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3725555018 Neonatal inflammatory skin and bowel disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725556017 Neonatal inflammatory skin and bowel disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
771801000241110 maladie inflammatoire intestinale et cutanée néonatale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
991471000172111 maladie inflammatoire intestinale et cutanée néonatale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3745223014 A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterized by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3745224015 A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterised by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhoea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. 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
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) Hereditary disorder of immune system true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) Inflammatory disorder of digestive tract false Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) survenue (attribut) néonatal true Inferred relationship Some 1
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) Primary immune deficiency disorder (disorder) true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) dermatite chronique true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) affection chronique de l'appareil digestif true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) morphologie associée (attribut) Chronic inflammation true Inferred relationship Some 1
Neonatal inflammatory skin and bowel disease (disorder) morphologie associée (attribut) Chronic inflammation true Inferred relationship Some 2
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) Neonatal gastrointestinal disorder true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) Disorder of intestine (disorder) false Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) évolution clinique (attribut) chronique true Inferred relationship Some 3
Neonatal inflammatory skin and bowel disease (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 2
Neonatal inflammatory skin and bowel disease (disorder) localisation d'une constatation (attribut) intestins true Inferred relationship Some 1
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) maladie chronique de la fonction immunitaire true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) survenue (attribut) néonatal true Inferred relationship Some 2
Neonatal inflammatory skin and bowel disease (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 4
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) maladie inflammatoire de l'intestin false Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) Dermatitis of the newborn true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) Inflammation of intestine (disorder) true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) maladie chronique d'une structure immunitaire true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) Autoinflammatory disease (disorder) true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) localisation d'une constatation (attribut) structure du système immunitaire true Inferred relationship Some 4
Neonatal inflammatory skin and bowel disease (disorder) morphologie associée (attribut) Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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