Complement component 5 deficiency

Preferred Label : Complement component 5 deficiency;

Symbol : C5D;

CISMeF acronym : C5D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : C5 deficiency;

Prefixed ID : #609536;

Details

Origin ID

609536;

UMLS CUI

C0343047;

Automatic exact mappings (from CISMeF team)
- C5 wt Allele [NCIt concept]
- Immunodeficiency due to a late component of complement deficiency [ORDO Disease]
Broader ORDO disease(s)
- Immunodeficiency due to a late component of complement deficiency [ORDO Disease]
CISMeF manual mappings
- Complement component C5 deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- C5 Deficiency [NCIt concept]
- Complement 5 deficiency (disorder) [SNOMED CT concept]
- Complement 5 dysfunction [MedDRA LLT]
- complement component 5 deficiency [DO Concept]
- complement component 5 deficiency [MeSH concept]
- complement component 5 deficiency [MeSH Supplementary Concept]
DO Cross reference
- complement component 5 deficiency [DO Concept]
Genes related to phenotype
- Complement component 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased serum complement C5 [HPO term]
- Generalized seborrheic dermatitis [HPO term]
- Intractable diarrhea [HPO term]
- Recurrent meningococcal disease [HPO term]
- Reduced hemolytic complement activity [HPO term]
ORDO concept(s)
- Erythroderma desquamativum [ORDO Disease]
- Immunodeficiency due to a late component of complement deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- C5 Deficiency [NCIt concept]
- Complement 5 dysfunction [MedDRA LLT]
- Complement 5 dysfunction (disorder) [SNOMED CT concept]
- Erythroderma desquamativum [ORDO Disease]
- Generalized seborrheic dermatitis of infants (disorder) [SNOMED CT concept]
- Infantile seborrheic dermatitis (disorder) [SNOMED CT concept]
- Infantile seborrhoeic dermatitis [ICD-11 Subcategory]
- Seborrheic infantile dermatitis [MedDRA LLT]
- Seborrheic infantile dermatitis [ICD-10 Sub-category]
- Seborrheic infantile dermatitis [ICD-9 code]
- Seborrhoeic infantile dermatitis [MedDRA LLT]
- Seborrhoeic infantile dermatitis [ICD-10 Sub-category (who)]
- complement component 5 deficiency [MeSH Supplementary Concept]
- complement component 5 deficiency [MeSH concept]
- generalized seborrheic dermatitis of infants [SNOMED Notion]

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