Craniofacial dyssynostosis with short stature

Preferred Label : Craniofacial dyssynostosis with short stature;

CISMeF acronym : BLSS;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : BLSS; Bilateral lambdoid and sagittal synostosis;

Inheritance : Isolated cases;

Prefixed ID : 218350;

Détails

Origin ID

218350;

UMLS CUI

C1857511;

Automatic exact mappings (from CISMeF team)
- Breast Lymphedema Symptom Survey [NCIt concept]
Currated CISMeF NLP mapping
- Craniofacial dyssynostosis [MeSH concept]
- Craniofacial dyssynostosis syndrome (disorder) [SNOMED CT concept]
- Non-syndromic bilambdoid and sagittal craniosynostosis [ORDO Disease]
- craniofacial dyssynostosis [MeSH Supplementary Concept]
HPO term(s)
- Abnormal location of ears [HPO term]
- Abnormal shape of the occiput [HPO term]
- Agenesis of corpus callosum [HPO term]
- Brachycephaly [HPO term]
- Brachyturricephaly [HPO term]
- Chiari type I malformation [HPO term]
- Cryptorchidism [HPO term]
- Enlarged cisterna magna [HPO term]
- Esotropia [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- High forehead [HPO term]
- Horseshoe kidney [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Narrow forehead [HPO term]
- Patent ductus arteriosus [HPO term]
- Pyloric stenosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Sporadic [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Non-syndromic bilambdoid and sagittal craniosynostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniofacial dyssynostosis [MeSH concept]
- Non-syndromic bilambdoid and sagittal craniosynostosis [ORDO Disease]
- craniofacial dyssynostosis [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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