kaufman oculocerebrofacial syndrome

Preferred Label : kaufman oculocerebrofacial syndrome;

MeSH note : Severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet;

Détails

Origin ID

C537013;

UMLS CUI

C1855663;

Automatic exact mappings (from CISMeF team)
- Kaufman oculocerebrofacial syndrome [DO Concept]
- Oculocerebrofacial syndrome Kaufman type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Kaufman oculocerebrofacial syndrome [OMIM Phenotype]
- Oculocerebrofacial syndrome, Kaufman type [ORDO Disease]
DO Cross reference
- Kaufman oculocerebrofacial syndrome [DO Concept]
Has phenotype(s) (HPO)
- High-arched palate [HPO term]
- Long, thin hands [HPO term]
MeSH term(s) associated for indexing
- eye abnormalities [MeSH Descriptor]
- facies [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
ORDO relation(s)
- Oculocerebrofacial syndrome, Kaufman type [ORDO Disease]
Record concept(s)
- Kaufman oculocerebrofacial syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kaufman oculocerebrofacial syndrome [OMIM Phenotype]
- Kaufman oculocerebrofacial syndrome [DO Concept]
- Oculocerebrofacial syndrome Kaufman type (disorder) [SNOMED CT concept]
- Oculocerebrofacial syndrome, Kaufman type [ORDO Disease]

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