microcephaly albinism digital anomalies syndrome

Preferred Label : microcephaly albinism digital anomalies syndrome;

MeSH synonym : Albinism-Microcephaly digital anomalies syndrome; Albinism-Microcephaly-Digital anomalies syndrome; Microcephaly-Albinism-Digital anomalies syndrome;

Details

Origin ID

C537322;

UMLS CUI

C1859910;

Automatic exact mappings (from CISMeF team)
- Microcephalus with albinism and digital anomaly syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Albinism-microcephaly-digital anomalies syndrome [OMIM Phenotype]
- Microcephaly-albinism-digital anomalies syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- albinism [MeSH Descriptor]
- fingers [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
ORDO relation(s)
- Microcephaly-albinism-digital anomalies syndrome [ORDO Disease]
Record concept(s)
- Microcephaly albinism digital anomalies syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism-microcephaly-digital anomalies syndrome [OMIM Phenotype]
- Microcephalus with albinism and digital anomaly syndrome (disorder) [SNOMED CT concept]
- Microcephaly-albinism-digital anomalies syndrome [ORDO Disease]

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