Hypotonia-cystinuria syndrome

Preferred Label : Hypotonia-cystinuria syndrome;

ICD-11 definition : Hypotonia-Cystinuria syndrome is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.;

ICD-11 synonym : HCS - [Hypotonia-cystinuria syndrome];

ICD-11 acronym : HCS;

Details

Origin ID

1742079513;

UMLS CUI

C1848030;

Automatic exact mappings (from CISMeF team)
- Biotin-Protein Ligase [NCIt concept]
- HLCS wt Allele [NCIt concept]
- Holocarboxylase synthetase [OMIM gene]
- Hyperspectral Camera System [NCIt concept]
- Hypoglycemic Confidence Scale Questionnaire [NCIt concept]
- biotin-[acetyl-CoA-carboxylase] ligase activity [GO term]
Currated CISMeF NLP mapping
- Hypotonia cystinuria syndrome (disorder) [SNOMED CT concept]
- Hypotonia-Cystinuria syndrome [MeSH Supplementary Concept]
- Hypotonia-Cystinuria syndrome [MeSH concept]
- Hypotonia-cystinuria syndrome [ORDO Disease]
- Hypotonia-cystinuria syndrome [OMIM Phenotype]
- Hypotonia-cystinuria syndrome [MedDRA Preferred Term]
- hypotonia cystinuria syndrome [Disease (Nov.)]
- hypotonia-cystinuria syndrome [DO Concept]
False automatic mappings
- CYCS wt Allele [NCIt concept]
- Congenital adrenal hyperplasia [ORDO Disease]
- Human placental lactogen (substance) [SNOMED CT concept]
- adrenal hyperplasia, congenital [MeSH Descriptor]
- clathrin heavy chain [ORDO Gene]
See also inter- (CISMeF)
- Atypical hypotonia cystinuria syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atypical hypotonia-cystinuria syndrome [ORDO Disease]
- Hypotonia cystinuria syndrome (disorder) [SNOMED CT concept]
- Hypotonia-Cystinuria syndrome [MeSH concept]
- Hypotonia-Cystinuria syndrome [MeSH Supplementary Concept]
- Hypotonia-cystinuria syndrome [OMIM Phenotype]
- Hypotonia-cystinuria syndrome [ORDO Disease]
- Hypotonia-cystinuria syndrome [MedDRA Preferred Term]
- hypotonia cystinuria syndrome [Disease (Nov.)]
- hypotonia-cystinuria syndrome [DO Concept]
Validated automatic mappings to BTNT
- Atypical hypotonia-cystinuria syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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