Copper deficiency, familial benign

Preferred Label : Copper deficiency, familial benign;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant vs. X-linked;

Prefixed ID : 121270;

Details

Origin ID

121270;

UMLS CUI

C1852576;

Currated CISMeF NLP mapping
- Benign familial copper deficiency [ICD-11 More detail]
- Copper deficiency, familial benign [MeSH concept]
- Familial benign copper deficiency [ORDO Disease]
- Familial benign copper deficiency (disorder) [SNOMED CT concept]
- copper deficiency, familial benign [MeSH Supplementary Concept]
HPO term(s)
- Abnormal circulating copper concentration [HPO term]
- Abnormality of the skeletal system [HPO term]
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Curly hair [HPO term]
- Decreased circulating copper concentration [HPO term]
- Early balding [HPO term]
- Failure to thrive [HPO term]
- Mild anemia [HPO term]
- Seborrheic dermatitis [HPO term]
- Seizure [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Familial benign copper deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Benign familial copper deficiency [ICD-11 More detail]
- Copper deficiency, familial benign [MeSH concept]
- Familial benign copper deficiency [ORDO Disease]
- Familial benign copper deficiency (disorder) [SNOMED CT concept]
- copper deficiency, familial benign [MeSH Supplementary Concept]

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