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773662009: Neonatal inflammatory skin and bowel disease (disorder)


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
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) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a Hereditary disorder of immune system true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a Inflammatory disorder of digestive tract false Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Occurrence Neonatal true Inferred relationship Some 1
Neonatal inflammatory skin and bowel disease (disorder) Is a Primary immune deficiency disorder true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a Chronic dermatitis true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a Chronic digestive system disorder true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Associated morphology Chronic inflammation false Inferred relationship Some 1
Neonatal inflammatory skin and bowel disease (disorder) Associated morphology Chronic inflammation false Inferred relationship Some 2
Neonatal inflammatory skin and bowel disease (disorder) Is a Neonatal gastrointestinal disorder true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a Disorder of intestine false Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Clinical course Chronic true Inferred relationship Some 3
Neonatal inflammatory skin and bowel disease (disorder) Finding site Skin structure false Inferred relationship Some 2
Neonatal inflammatory skin and bowel disease (disorder) Finding site Intestinal structure false Inferred relationship Some 1
Neonatal inflammatory skin and bowel disease (disorder) Is a Chronic disease of immune function (disorder) true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Occurrence Neonatal 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) Is a Inflammatory bowel disease false Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a Dermatitis of the newborn true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a Inflammation of intestine (disorder) true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a Chronic disease of immune structure (disorder) true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a Autoinflammatory disease (disorder) true Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Finding site Structure of immune system (body structure) true Inferred relationship Some 4
Neonatal inflammatory skin and bowel disease (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 4
Neonatal inflammatory skin and bowel disease (disorder) Finding site Skin structure true Inferred relationship Some 1
Neonatal inflammatory skin and bowel disease (disorder) Associated morphology Chronic inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1
Neonatal inflammatory skin and bowel disease (disorder) Finding site Intestinal structure true Inferred relationship Some 2
Neonatal inflammatory skin and bowel disease (disorder) Associated morphology Chronic inflammatory morphology (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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