lymphedema, microcephaly and chorioretinopathy syndrome

Preferred Label : lymphedema, microcephaly and chorioretinopathy syndrome;

MeSH synonym : microcephaly lymphedema chorioretinal dysplasia; chorioretinal dysplasia-microcephaly-mental retardation syndrome; lymphedema and retinal folds with microcephaly and microphthalmos; microcephaly, lymphedema, chorioretinal dysplasia syndrome; lymphedema, microcephaly, chorioretinopathy syndrome;

Details

Origin ID

C537711;

UMLS CUI

C1835265;

Automatic exact mappings (from CISMeF team)
- Microcephalus, lymphedema, chorioretinopathy syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development [OMIM Phenotype]
- Microcephaly-lymphedema-chorioretinopathy syndrome [ORDO Disease]
- microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [DO Concept]
DO Cross reference
- microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [DO Concept]
Has phenotype(s) (HPO)
- Flattened nasal bridge [HPO term]
- Full lips [HPO term]
- Prominent ears [HPO term]
- Prominent philtrum [HPO term]
MeSH term(s) associated for indexing
- facies [MeSH Descriptor]
- lymphedema [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- retinal dysplasia [MeSH Descriptor]
ORDO relation(s)
- Microcephaly-lymphedema-chorioretinopathy syndrome [ORDO Disease]
Record concept(s)
- Lymphedema, microcephaly and chorioretinopathy syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development [OMIM Phenotype]
- Microcephaly-lymphedema-chorioretinopathy syndrome [ORDO Disease]
- microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [DO Concept]

Keyword's position in hierarchy(ies) :

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