split hand split foot nystagmus

Preferred Label : split hand split foot nystagmus;

MeSH synonym : Karsch-Neugebauer syndrome; split hand nystagmus syndrome; Nystagmus-Split hand syndrome; Split-Hand with congenital nystagmus, fundal changes, and cataracts;

Détails

Origin ID

C537319;

UMLS CUI

C1866740;

Automatic exact mappings (from CISMeF team)
- Karsch-Neugebauer syndrome [MedDRA LLT]
- Split hand nystagmus syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Karsch Neugebauer syndrome (disorder) [SNOMED CT concept]
- Karsch-Neugebauer syndrome [ORDO Disease]
- Split-hand with congenital nystagmus, fundal changes, and cataracts [OMIM Phenotype]
MeSH term(s) associated for indexing
- foot deformities, congenital [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- nystagmus, pathologic [MeSH Descriptor]
ORDO relation(s)
- Karsch-Neugebauer syndrome [ORDO Disease]
Record concept(s)
- Split hand split foot nystagmus [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Karsch Neugebauer syndrome (disorder) [SNOMED CT concept]
- Karsch-Neugebauer syndrome [ORDO Disease]
- Karsch-Neugebauer syndrome [MedDRA LLT]
- Split hand nystagmus syndrome [MedDRA Preferred Term]
- Split-hand with congenital nystagmus, fundal changes, and cataracts [OMIM Phenotype]

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