Hunter-McAlpine craniosynostosis

Preferred Label : Hunter-McAlpine craniosynostosis;

ICD-11 definition : Hunter-McAlpine craniosynostosis is a syndrome characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphology (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies.;

ICD-11 synonym : 5q35.2 duplication;

Détails

Origin ID

1445975694;

UMLS CUI

C1832408;

Currated CISMeF NLP mapping
- Hunter McAlpine craniosynostosis syndrome (disorder) [SNOMED CT concept]
- Hunter-McAlpine syndrome [ORDO Disease]
- Hunter-McAlpine syndrome [MeSH Supplementary Concept]
- Hunter-McAlpine syndrome [MeSH concept]
- Hunter-mcalpine craniosynostosis syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hunter McAlpine craniosynostosis syndrome (disorder) [SNOMED CT concept]
- Hunter-McAlpine syndrome [MeSH concept]
- Hunter-McAlpine syndrome [MeSH Supplementary Concept]
- Hunter-McAlpine syndrome [ORDO Disease]
- Hunter-mcalpine craniosynostosis syndrome [OMIM Phenotype]

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

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