773662009: Neonatal inflammatory skin and bowel disease (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease

\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease

\Chronic disease of skin\Chronic dermatitis\Neonatal inflammatory skin and bowel disease

\Viscus structure finding\Abdominal organ finding\Bowel finding\Intestinal disease\Enteritis of intestine\Neonatal inflammatory skin and bowel disease

\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Neonatal gastrointestinal disorder\Neonatal inflammatory skin and bowel disease
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Digestive system finding\Disorder of digestive system\Inflammatory disorder of digestive system\Inflammatory disorder of digestive tract\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Neonatal inflammatory skin and bowel disease
\Digestive system finding\Disorder of digestive system\Chronic digestive system disorder\Neonatal inflammatory skin and bowel disease
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Inflammatory disorder of digestive tract\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Neonatal gastrointestinal disorder\Neonatal inflammatory skin and bowel disease
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Digestive system finding\Disorder of digestive system\Perinatal digestive system disorders\Neonatal gastrointestinal disorder\Neonatal inflammatory skin and bowel disease

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Neonatal inflammatory skin and bowel disease

\General finding of soft tissue\Skin finding\Disorder of skin\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\General finding of soft tissue\Skin finding\Disorder of skin\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\General finding of soft tissue\Skin finding\Disorder of skin\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\General finding of soft tissue\Skin finding\Disorder of skin\Chronic disease of skin\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Dermatosis of infancy\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Chronic dermatitis\Neonatal inflammatory skin and bowel disease

\Finding of neonate\Neonatal disorder\...

\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease

\Neonatal gastrointestinal disorder\Neonatal inflammatory skin and bowel disease

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Neonatal inflammatory skin and bowel disease
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Dermatosis of infancy\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Integumentary system finding\Skin finding\Disorder of skin\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Integumentary system finding\Skin finding\Disorder of skin\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Integumentary system finding\Skin finding\Disorder of skin\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Integumentary system finding\Skin finding\Disorder of skin\Chronic disease of skin\Chronic dermatitis\Neonatal inflammatory skin and bowel disease

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Neonatal inflammatory skin and bowel disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Neonatal inflammatory skin and bowel disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Neonatal inflammatory skin and bowel disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of immune function\Autoinflammatory disease\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of immune function\Chronic disease of immune function\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of immune function\Hereditary disorder of immune system\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of fetus or newborn\Disorder involving the integument of fetus OR newborn\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of fetus or newborn\Perinatal digestive system disorders\Neonatal gastrointestinal disorder\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of fetus or newborn\Neonatal disorder\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of fetus or newborn\Neonatal disorder\Neonatal gastrointestinal disorder\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of immune structure\Chronic disease of immune structure\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of digestive system\Inflammatory disorder of digestive tract\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Dermatosis of infancy\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of digestive system\Inflammatory disorder of digestive system\Inflammatory disorder of digestive tract\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of digestive system\Chronic digestive system disorder\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Inflammatory disorder of digestive tract\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Neonatal gastrointestinal disorder\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of body system\Disorder of digestive system\Perinatal digestive system disorders\Neonatal gastrointestinal disorder\Neonatal inflammatory skin and bowel disease
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of digestive system\Inflammatory disorder of digestive tract\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Neonatal inflammatory skin and bowel disease
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Inflammatory disorder\Chronic inflammatory disorder\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Neonatal inflammatory skin and bowel disease
\Disease\Chronic disease\Chronic disease of immune structure\Neonatal inflammatory skin and bowel disease
\Disease\Chronic disease\Chronic disease of immune function\Neonatal inflammatory skin and bowel disease
\Disease\Chronic disease\Chronic inflammatory disorder\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Disease\Chronic disease\Chronic digestive system disorder\Neonatal inflammatory skin and bowel disease
\Disease\Chronic disease\Chronic disease of skin\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Dermatosis of infancy\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Chronic dermatitis\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Neonatal dermatosis\Dermatitis of the newborn\Neonatal inflammatory skin and bowel disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Chronic dermatitis\Neonatal inflammatory skin and bowel disease

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3725556017 Neonatal inflammatory skin and bowel disease en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neonatal inflammatory skin and bowel disease	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Is a	Inflammatory disorder of digestive tract	false	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Occurrence	Neonatal	true	Inferred relationship	Some	1
Neonatal inflammatory skin and bowel disease	Is a	Primary immune deficiency disorder	true	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Is a	Chronic dermatitis	true	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Is a	Chronic digestive system disorder	true	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Associated morphology	Chronic inflammation	true	Inferred relationship	Some	1
Neonatal inflammatory skin and bowel disease	Associated morphology	Chronic inflammation	true	Inferred relationship	Some	2
Neonatal inflammatory skin and bowel disease	Is a	Neonatal gastrointestinal disorder	true	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Is a	Intestinal disease	false	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Clinical course	Chronic	true	Inferred relationship	Some	3
Neonatal inflammatory skin and bowel disease	Finding site	Skin structure	true	Inferred relationship	Some	2
Neonatal inflammatory skin and bowel disease	Finding site	Intestinal structure	true	Inferred relationship	Some	1
Neonatal inflammatory skin and bowel disease	Is a	Chronic disease of immune function	true	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Occurrence	Neonatal	true	Inferred relationship	Some	2
Neonatal inflammatory skin and bowel disease	Pathological process	Abnormal immune process	true	Inferred relationship	Some	4
Neonatal inflammatory skin and bowel disease	Is a	Inflammatory bowel disease	false	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Is a	Dermatitis of the newborn	true	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Is a	Inflammatory hereditary disorder	false	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Is a	Enteritis of intestine	true	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Is a	Chronic disease of immune structure	true	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Is a	Autoinflammatory disease	true	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease	Finding site	Structure of immune system	true	Inferred relationship	Some	4
Neonatal inflammatory skin and bowel disease	Associated morphology	Inflammatory morphology	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3725555018	Neonatal inflammatory skin and bowel disease (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3725556017	Neonatal inflammatory skin and bowel disease	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core