qazi markouizos syndrome

Preferred Label : qazi markouizos syndrome;

MeSH note : Hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion;

MeSH synonym : puertorican infant hypotonia syndrome; dysharmonic skeletal maturation muscular fibre disproportion; puerto rican infant hypotonia syndrome;

Details

Origin ID

C536259;

UMLS CUI

C2931142;

Currated CISMeF NLP mapping
- Puerto Rican infant hypotonia syndrome (disorder) [SNOMED CT concept]
- Puerto rican infant hypotonia syndrome [OMIM Phenotype]
- Qazi Markouizos syndrome [DO Concept]
- Qazi-Markouizos syndrome [ORDO Disease]
DO Cross reference
- Qazi Markouizos syndrome [DO Concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
- seizures [MeSH Descriptor]
ORDO relation(s)
- Qazi-Markouizos syndrome [ORDO Disease]
Record concept(s)
- Qazi Markouizos syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Puerto Rican infant hypotonia syndrome (disorder) [SNOMED CT concept]
- Puerto rican infant hypotonia syndrome [OMIM Phenotype]
- Qazi Markouizos syndrome [DO Concept]
- Qazi-Markouizos syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients