macrocephaly, alopecia, cutis laxa, and scoliosis

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

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0568070;

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]
Related record
- macrocephaly, alopecia, cutis laxa, and scoliosis [MeSH Supplementary 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]