Terminology Service for NFDI4Health
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microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

Go to external page http://purl.obolibrary.org/obo/MONDO_0007918

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. [ ]

Term info

Label

microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

Synonyms
  • MLCRD
  • chorioretinal dysplasia-microcephaly-intellectual disability syndrome
  • chorioretinal dysplasia-microcephaly-mental retardation syndrome
  • lymphedema and retinal folds with ficrocephaly and microphthalmos
  • lymphedema, microcephaly and chorioretinopathy syndrome
  • microcephaly lymphedema chorioretinal dysplasia
  • microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
  • microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
  • microcephaly, lymphedema, chorioretinal dysplasia syndrome
database cross reference
Subsets

ordo_malformation_syndrome

exactMatch

https://omim.org/entry/152950, http://identifiers.org/mesh/C537711, http://purl.obolibrary.org/obo/Orphanet_2526, http://purl.obolibrary.org/obo/DOID_0060349, http://linkedlifedata.com/resource/umls/id/C1835265

has related synonym

lymphedema, microcephaly, chorioretinopathy syndrome, Mlcrd syndrome, microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant, lymphedema and retinal Folds with microcephaly and microphthalmos, microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant, Cdmmr syndrome, MCLMR, microcephaly-lymphedema-chorioretinopathy syndrome

id

MONDO:0007918

narrowMatch

https://icd.codes/icd10cm/Q87.8