Spondylocostal dysostosis with anal atresia and urogenital anomalies

Preferred Label : Spondylocostal dysostosis with anal atresia and urogenital anomalies;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cmn syndrome; Casamassima-morton-nance syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 271520;

Details

Origin ID

271520;

UMLS CUI

C1849069;

Currated CISMeF NLP mapping
- Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) [SNOMED CT concept]
- Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome [ORDO Disease]
- spondylocostal dysostosis with anal atresia and urogenital anomalies [MeSH concept]
- spondylocostal dysostosis with anal atresia and urogenital anomalies [MeSH Supplementary Concept]
HPO term(s)
- Abdominal distention [HPO term]
- Absent external genitalia [HPO term]
- Anal atresia [HPO term]
- Aplasia of the uterus [HPO term]
- Aplasia of the vagina [HPO term]
- Autosomal recessive inheritance [HPO term]
- Block vertebrae [HPO term]
- Dolichocephaly [HPO term]
- Hemivertebrae [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Inguinal hernia [HPO term]
- Missing ribs [HPO term]
- Oligohydramnios [HPO term]
- Pulmonary hypoplasia [HPO term]
- Rib fusion [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Short ribs [HPO term]
- Short, thin ribs [HPO term]
- Single umbilical artery [HPO term]
- Supernumerary vertebrae [HPO term]
- Thin ribs [HPO term]
- Urethral atresia [HPO term]
- Vertebral fusion [HPO term]
ORDO concept(s)
- Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) [SNOMED CT concept]
- Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome [ORDO Disease]
- spondylocostal dysostosis with anal atresia and urogenital anomalies [MeSH Supplementary Concept]
- spondylocostal dysostosis with anal atresia and urogenital anomalies [MeSH concept]

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