Macrocephaly – alopecia – cutis laxa – scoliosis syndrome

Preferred Label : Macrocephaly – alopecia – cutis laxa – scoliosis syndrome;

ICD-11 synonym : MACS - [Macrocephaly – alopecia – cutis laxa – scoliosis syndrome]; MACS syndrome (MIM 613075); MACS syndrome;

ICD-11 acronym : MACS;

Details

Origin ID

648412341;

UMLS CUI

C2751321;

Automatic exact mappings (from CISMeF team)
- Myristoylated alanine-rich protein kinase C substrate [OMIM gene]
CISMeF manual mappings
- RIN2 syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) [SNOMED CT concept]
- Macs syndrome [OMIM Phenotype]
- macrocephaly, alopecia, cutis laxa, and scoliosis [MeSH concept]
- macrocephaly, alopecia, cutis laxa, and scoliosis [MeSH Supplementary Concept]
False automatic mappings
- Cell adhesion molecule [FMA entity]
- MARCKS wt Allele [NCIt concept]
- Maceration [ICNP subject]
- Maceration (morphologic abnormality) [SNOMED CT concept]
- Magnetic Affinity Cell Sorting [NCIt concept]
- Raincoat (physical object) [SNOMED CT concept]
- cell adhesion molecules [MeSH Descriptor]
- maceration [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) [SNOMED CT concept]
- Macs syndrome [OMIM Phenotype]
- RIN2 syndrome [ORDO Disease]
- macrocephaly, alopecia, cutis laxa, and scoliosis [MeSH concept]
- macrocephaly, alopecia, cutis laxa, and scoliosis [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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