C5 Deficiency - CISMeF

Preferred Label : C5 Deficiency;

NCIt definition : A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.;

Details

Origin ID

C9469;

UMLS CUI

C0343047;

Currated CISMeF NLP mapping
- Complement 5 deficiency (disorder) [SNOMED CT concept]
- Complement 5 dysfunction [MedDRA LLT]
- Complement 5 dysfunction (disorder) [SNOMED CT concept]
- Complement component 5 deficiency [OMIM Phenotype]
- Complement component C5 deficiency [ICD-11 More detail]
- complement component 5 deficiency [DO Concept]
- complement component 5 deficiency [MeSH Supplementary Concept]
- complement component 5 deficiency [MeSH concept]
DO Cross reference
- complement component 5 deficiency [DO Concept]
False automatic mappings
- Seborrheic infantile dermatitis [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Complement 5 dysfunction [MedDRA LLT]
- Complement 5 dysfunction (disorder) [SNOMED CT concept]
- Complement component 5 deficiency [OMIM Phenotype]
- 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]
Validated automatic mappings to BTNT
- Erythroderma desquamativum [ORDO Disease]
associated_with_malfunction_of_gene_product
- Complement C5 [NCIt concept]
disease_has_associated_gene
- C5 Gene [NCIt concept]
- C5 wt Allele [NCIt concept]
disease_mapped_to_gene
- C5 Gene [NCIt concept]
related_to_genetic_biomarker
- C5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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