Intellectual deficit - balding - patella luxation - acromicria

Preferred Label : Intellectual deficit - balding - patella luxation - acromicria;

ICD-11 definition : Intellectual deficit - balding - patella luxation - acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding).;

Details

Origin ID

956327357;

UMLS CUI

C1866985;

Currated CISMeF NLP mapping
- Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-balding-patella luxation-acromicria syndrome [ORDO Disease]
- Scholte syndrome [OMIM Phenotype]
- Scholte syndrome [OMIM Phenotype]
- Scholte syndrome [MeSH concept]
- scholte syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-balding-patella luxation-acromicria syndrome [ORDO Disease]
- Scholte syndrome [OMIM Phenotype]
- Scholte syndrome [OMIM Phenotype]
- Scholte syndrome [MeSH concept]
- scholte syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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