Hadziselimovic syndrome

Preferred Label : Hadziselimovic syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Microcephaly-faciocardioskeletal syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : %612946;

Details

Origin ID

612946;

UMLS CUI

C2751878;

Currated CISMeF NLP mapping
- 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]
- hadziselimovic syndrome [MeSH concept]
- hadziselimovic syndrome [MeSH Supplementary Concept]
HPO term(s)
- Absent speech [HPO term]
- Anal atresia [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Delayed skeletal maturation [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Full lips [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High pitched voice [HPO term]
- High-arched palate [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nasal bridge [HPO term]
- Ptosis [HPO term]
- Pulmonary artery atresia [HPO term]
- Renal hypoplasia [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Tetralogy of Fallot [HPO term]
- Thick lower lip vermilion [HPO term]
- U-Shaped upper lip vermilion [HPO term]
- Ventricular hypertrophy [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type (disorder) [SNOMED CT concept]
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type [ORDO Disease]
- hadziselimovic syndrome [MeSH Supplementary Concept]
- hadziselimovic syndrome [MeSH concept]

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