encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration

Preferred Label : encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0565894;

UMLS CUI

C1856973;

Currated CISMeF NLP mapping
- Encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration [OMIM Phenotype]
Related record
- encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bonnemann-Meinecke-Reich syndrome [ORDO Disease]
- Encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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