773702002: Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Vesicle of skin\Pustule\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Vesicle of skin\Pustule\Sterile multifocal osteomyelitis with periostitis and pustulosis

\General finding of soft tissue\Skin finding\Disorder of skin\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Vesicle of skin\Pustule\Sterile multifocal osteomyelitis with periostitis and pustulosis
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Vesicle of skin\Pustule\Sterile multifocal osteomyelitis with periostitis and pustulosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Dermatosis of infancy\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Vesicle of skin\Pustule\Sterile multifocal osteomyelitis with periostitis and pustulosis

\Finding of neonate\Neonatal disorder\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Dermatosis of infancy\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Vesicle of skin\Pustule\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Integumentary system finding\Skin finding\Disorder of skin\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Vesicle of skin\Pustule\Sterile multifocal osteomyelitis with periostitis and pustulosis

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Sterile multifocal osteomyelitis with periostitis and pustulosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of immune function\Autoinflammatory disease\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of immune function\Hereditary disorder of immune system\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of fetus or newborn\Disorder involving the integument of fetus OR newborn\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of fetus or newborn\Neonatal disorder\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Vesicle of skin\Pustule\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Dermatosis of infancy\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Vesicle of skin\Pustule\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Congenital disease\Congenital immunodeficiency disease\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Vesicle of skin\Pustule\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Dermatosis of infancy\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Neonatal dermatosis\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Vesicle of skin\Pustule\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Developmental disorder\Developmental hereditary disorder\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Sterile multifocal osteomyelitis with periostitis and pustulosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Sterile multifocal osteomyelitis with periostitis and pustulosis

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3725847019 Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency en Synonym Active Case insensitive SNOMED CT core

3725848012 Interleukin-1 receptor antagonist deficiency en Synonym Active Case insensitive SNOMED CT core

3725849016 OMPP - sterile osteomyelitis, multifocal with periostitis and pustulosis en Synonym Active Case sensitive SNOMED CT core

3725850016 Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3725851017 Sterile multifocal osteomyelitis with periostitis and pustulosis en Synonym Active Case insensitive SNOMED CT core

3725852012 A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. en Definition Active Case sensitive SNOMED CT core

3725853019 A rare severe genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sterile multifocal osteomyelitis with periostitis and pustulosis	Finding site	Bone structure	true	Inferred relationship	Some	2
Sterile multifocal osteomyelitis with periostitis and pustulosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Sterile multifocal osteomyelitis with periostitis and pustulosis	Associated morphology	Pustule	true	Inferred relationship	Some	3
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Inflammatory disorder of immune system	false	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Sterile multifocal osteomyelitis with periostitis and pustulosis	Associated morphology	Inflammation	false	Inferred relationship	Some	1
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Primary immune deficiency disorder	true	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Finding site	Skin structure	true	Inferred relationship	Some	3
Sterile multifocal osteomyelitis with periostitis and pustulosis	Occurrence	Neonatal	true	Inferred relationship	Some	3
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Finding site	Structure of immune system	true	Inferred relationship	Some	1
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Neonatal dermatosis	true	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Sterile multifocal osteomyelitis with periostitis and pustulosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Skin lesion	false	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Pathological process	Abnormal immune process	false	Inferred relationship	Some	4
Sterile multifocal osteomyelitis with periostitis and pustulosis	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Associated morphology	Inflammatory morphology	true	Inferred relationship	Some	1
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Vesicle of skin	false	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Pustule	true	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Inflammatory hereditary disorder	false	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Occurrence	Fetal or neonatal period	false	Inferred relationship	Some	5
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Disorder involving the integument of fetus OR newborn	false	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Is a	Autoinflammatory disease	true	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis	Pathological process	Abnormal immune process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3725847019	Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3725848012	Interleukin-1 receptor antagonist deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3725849016	OMPP - sterile osteomyelitis, multifocal with periostitis and pustulosis	en	Synonym	Active	Case sensitive	SNOMED CT core
3725850016	Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3725851017	Sterile multifocal osteomyelitis with periostitis and pustulosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3725852012	A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14.	en	Definition	Active	Case sensitive	SNOMED CT core
3725853019	A rare severe genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14.	en	Definition	Active	Case sensitive	SNOMED CT core