Aphalangy with hemivertebrae

Preferred Label : Aphalangy with hemivertebrae;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 207620;

Details

Origin ID

207620;

UMLS CUI

C1859754;

Currated CISMeF NLP mapping
- Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder) [SNOMED CT concept]
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome [ORDO Disease]
- Johnson Munson syndrome [MeSH concept]
- johnson munson syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the genitourinary system [HPO term]
- Aphalangy of hands and feet [HPO term]
- Aphalangy of the hands [HPO term]
- Aplasia of the phalanges of the toes [HPO term]
- Autosomal recessive inheritance [HPO term]
- Genitourinary tract malformation [HPO term]
- Hemivertebrae [HPO term]
- Pulmonary hypoplasia [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder) [SNOMED CT concept]
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome [ORDO Disease]
- Johnson Munson syndrome [MeSH concept]
- johnson munson syndrome [MeSH Supplementary Concept]

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