Steinfeld syndrome

Preferred Label : Steinfeld syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 184705;

Details

Origin ID

184705;

UMLS CUI

C1866649;

CISMeF manual mappings
- Steinfeld syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Holoprosencephaly-radial heart renal anomalies syndrome [ORDO Disease]
- steinfeld syndrome [MeSH concept]
- steinfeld syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal vertebral morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Abnormality of the vertebral column [HPO term]
- Absent gallbladder [HPO term]
- Aplasia of the nose [HPO term]
- Aplasia/Hypoplasia of the thumb [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Bilateral hypoplasia of radius and ulna [HPO term]
- Congenital hearing loss [HPO term]
- Dysplastic ears [HPO term]
- Hearing impairment [HPO term]
- Holoprosencephaly [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Iris coloboma [HPO term]
- Median cleft lip and palate [HPO term]
- Microphthalmia [HPO term]
- Missing ribs [HPO term]
- Phocomelia [HPO term]
- Retinal coloboma [HPO term]
- Unilateral renal dysplasia [HPO term]
ORDO concept(s)
- Holoprosencephaly-radial heart renal anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Holoprosencephaly-radial heart renal anomalies syndrome [ORDO Disease]
- Steinfeld syndrome (disorder) [SNOMED CT concept]
- steinfeld syndrome [MeSH Supplementary Concept]
- steinfeld syndrome [MeSH concept]

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