Neutrophilic dermatosis, acute febrile

Preferred Label : Neutrophilic dermatosis, acute febrile;

Symbol : AFND;

CISMeF acronym : AFND; SS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pyrin-associated autoinflammatory disease; SS; Gomm-button disease; Sweet syndrome; PAAND;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the MEFV innate immunity regulator, pyrin gene (MEFV, 608107.0021);

Laboratory abnormalities : Increased IL1B; Increased IL1RA; Increased IL6; Increased C-reactive protein; Increased TNFA; Increased acute phase reactants; Increased ESR; Increased IL18;

Prefixed ID : #608068;

Details

Origin ID

608068;

UMLS CUI

C0085077;

Automatic exact mappings (from CISMeF team)
- Acromelic frontonasal dysplasia [ORDO Disease]
- Acute febrile neutrophilic dermatosis [PASCAL descriptor]
- GYPB wt Allele [NCIt concept]
- Inch/second (qualifier value) [SNOMED CT concept]
- Lower case Roman letter s (qualifier value) [SNOMED CT concept]
- S Ag [LOINC component]
- SS, Rat Strain [NCIt concept]
- Second [NCIt concept]
- Seconds (qualifier value) [SNOMED CT concept]
- Short Stay [NCIt concept]
- Sick Sinus Syndrome [NCIt concept]
- Siemens [NCIt concept]
- Subject Status Domain [NCIt concept]
- Sweet syndrome [DO Concept]
- Synovial Sarcoma [NCIt concept]
- Upper case Roman letter S (qualifier value) [SNOMED CT concept]
- acromelic frontonasal dysplasia [MeSH Supplementary Concept]
- per second (qualifier value) [SNOMED CT concept]
- short stature homeobox [ORDO Gene]
Currated CISMeF NLP mapping
- Acute febrile neutrophilic dermatosis [ICD-11 Category]
- Acute febrile neutrophilic dermatosis [MedDRA Preferred Term]
- Acute febrile neutrophilic dermatosis (disorder) [SNOMED CT concept]
- Febrile neutrophilic dermatosis [Sweet] [ICD-10 Sub-category (who)]
- Febrile neutrophilic dermatosis [Sweet] [ICD-10 Sub-category]
- Sweet Syndrome [NCIt concept]
- Sweet syndrome [Disease (Nov.)]
- Sweet syndrome [ORDO Disease]
- Sweet's syndrome [MedDRA LLT]
- acute febrile neutrophilic dermatosis [SNOMED Notion]
- sweet syndrome [MeSH Descriptor]
- sweet syndrome [MeSH concept]
False automatic mappings
- South Sudan [NCIt concept]
Genes related to phenotype
- Mefv innate immunity regulator, pyrin [OMIM gene]
HPO term(s)
- Acne inversa [HPO term]
- Anemia [HPO term]
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Cystic acne [HPO term]
- Dilated cardiomyopathy [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Erythema [HPO term]
- Myalgia [HPO term]
- Panniculitis [HPO term]
- Pyoderma gangrenosum [HPO term]
- Recurrent fever [HPO term]
- Small vessel vasculitis [HPO term]
ORDO concept(s)
- Sweet syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acute febrile neutrophilic dermatosis [MedDRA Preferred Term]
- Acute febrile neutrophilic dermatosis [ICD-11 Category]
- Acute febrile neutrophilic dermatosis (disorder) [SNOMED CT concept]
- Febrile neutrophilic dermatosis [Sweet] [ICD-10 Sub-category (who)]
- Febrile neutrophilic dermatosis [Sweet] [ICD-10 Sub-category]
- Sweet Syndrome [NCIt concept]
- Sweet syndrome [ORDO Disease]
- Sweet syndrome [Disease (Nov.)]
- Sweet's syndrome [MedDRA LLT]
- acute febrile neutrophilic dermatosis [SNOMED Notion]
- sweet syndrome [MeSH Descriptor]
- sweet syndrome [MeSH concept]

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