Collagenosis, familial reactive perforating

Preferred Label : Collagenosis, familial reactive perforating;

Symbol : RPC;

CISMeF acronym : RPC;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %216700;

Details

Origin ID

216700;

UMLS CUI

C1857624;

Automatic exact mappings (from CISMeF team)
- RNA 3'-terminal phosphate cyclase [HGNC gene]
- Recurrent Pyogenic Cholangitis [NCIt concept]
- Serine/Threonine Protein Phosphatase 2A Catalytic Subunit Alpha Isoform [NCIt concept]
- clinical practice guideline [Artificial nutrition thesaurus concept]
- parvocellular part of red nucleus [UBERON concept]
- practice guideline [CISMeF resources Type]
- practice guidelines as topic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial reactive perforating collagenosis [ICD-11 More detail]
- Familial reactive perforating collagenosis [ORDO Disease]
- collagenosis, familial reactive perforating [MeSH concept]
- collagenosis, familial reactive perforating [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the skin [HPO term]
- Autosomal recessive inheritance [HPO term]
ORDO concept(s)
- Familial reactive perforating collagenosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial reactive perforating collagenosis [ORDO Disease]
- Familial reactive perforating collagenosis [ICD-11 More detail]
- collagenosis, familial reactive perforating [MeSH Supplementary Concept]
- collagenosis, familial reactive perforating [MeSH concept]

Keyword's position in hierarchy(ies) :

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