Hypotonia-Cystinuria syndrome

Preferred Label : Hypotonia-Cystinuria syndrome;

MeSH synonym : cystinuria with mitochondrial disease; homozygous 2p21 deletion syndrome;

Details

Origin ID

C564710;

UMLS CUI

C1848030;

Automatic exact mappings (from CISMeF team)
- Congenital adrenal hyperplasia [ORDO Disease]
- Human placental lactogen (substance) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Atypical hypotonia-cystinuria syndrome [ICD-11 More detail]
- Hypotonia cystinuria syndrome (disorder) [SNOMED CT concept]
- Hypotonia-cystinuria syndrome [ICD-11 More detail]
- Hypotonia-cystinuria syndrome [MedDRA Preferred Term]
- Hypotonia-cystinuria syndrome [OMIM Phenotype]
- Hypotonia-cystinuria syndrome [ORDO Disease]
- hypotonia cystinuria syndrome [Disease (Nov.)]
- hypotonia-cystinuria syndrome [DO Concept]
MeSH term(s) associated for indexing
- chromosome deletion [MeSH Descriptor]
- chromosomes, human, pair 21 [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- cystinuria [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
Record concept(s)
- Hypotonia-Cystinuria syndrome [MeSH concept]
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 [OMIM Phenotype]
- Hypotonia-cystinuria syndrome [ORDO Disease]
- Hypotonia-cystinuria syndrome [ICD-11 More detail]
- Hypotonia-cystinuria syndrome [MedDRA Preferred Term]
- hypotonia cystinuria syndrome [Disease (Nov.)]
- hypotonia-cystinuria syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

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