macrocephaly, alopecia, cutis laxa, and scoliosis - CISMeF

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Macrocephaly, alopecia, cutis laxa, and scoliosisMeSH Supplementary Concept

Preferred Label : macrocephaly, alopecia, cutis laxa, and scoliosis;

MeSH synonym : MACS syndrome;

Details

Origin ID

C567770;

UMLS CUI

C2751321;

Currated CISMeF NLP mapping
- Macrocephaly – alopecia – cutis laxa – scoliosis syndrome [ICD-11 More detail]
- Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) [SNOMED CT concept]
- Macs syndrome [OMIM Phenotype]
- RIN2 syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- Megalencephaly [MeSH Descriptor]
- alopecia [MeSH Descriptor]
- cutis laxa [MeSH Descriptor]
- scoliosis [MeSH Descriptor]
ORDO relation(s)
- RIN2 syndrome [ORDO Disease]
Record concept(s)
- macrocephaly, alopecia, cutis laxa, and scoliosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macrocephaly – alopecia – cutis laxa – scoliosis syndrome [ICD-11 More detail]
- Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) [SNOMED CT concept]
- Macs syndrome [OMIM Phenotype]
- RIN2 syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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24/10/2025

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