megalencephaly cutis marmorata telangiectatica congenita

Preferred Label : megalencephaly cutis marmorata telangiectatica congenita;

MeSH synonym : megalocephaly cutis marmorata telangiectatica congenita; macrocephaly cutis marmorata telangiectatica congenita; Megalencephaly-Cutis marmorata telangiectatica congenita; Macrocephaly-Capillary malformation; Macrocephaly-Cutis marmorata telangiectatica congenita;

Details

Origin ID

C536142;

UMLS CUI

C1865285;

Automatic exact mappings (from CISMeF team)
- Macrocephaly - capillary malformation [ICD-11 More detail]
Currated CISMeF NLP mapping
- Megalencephaly capillary malformation (disorder) [SNOMED CT concept]
- Megalencephaly-capillary malformation-polymicrogyria syndrome [OMIM Phenotype]
- Megalencephaly-capillary malformation-polymicrogyria syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- Megalencephaly [MeSH Descriptor]
- abnormalities, multiple [MeSH Descriptor]
- skin diseases, vascular [MeSH Descriptor]
- telangiectasis [MeSH Descriptor]
Record concept(s)
- Megalencephaly cutis marmorata telangiectatica congenita [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Megalencephaly capillary malformation (disorder) [SNOMED CT concept]
- Megalencephaly-capillary malformation syndrome [MedDRA LLT]
- Megalencephaly-capillary malformation syndrome (disorder) [SNOMED CT concept]
- Megalencephaly-capillary malformation-polymicrogyria syndrome [OMIM Phenotype]
- Megalencephaly-capillary malformation-polymicrogyria syndrome [ORDO Disease]

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