hadziselimovic syndrome

Preferred Label : hadziselimovic syndrome;

Définition CISMeF : Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.;

MeSH synonym : Microcephaly-Faciocardioskeletal syndrome;

Details

Origin ID

C567850;

UMLS CUI

C2751878;

Currated CISMeF NLP mapping
- Hadziselimovic syndrome [OMIM Phenotype]
- Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type (disorder) [SNOMED CT concept]
- Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type [ICD-11 More detail]
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
- facies [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
Record concept(s)
- hadziselimovic syndrome [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hadziselimovic syndrome [OMIM Phenotype]
- Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type (disorder) [SNOMED CT concept]
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type [ORDO Disease]

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