amaurosis hypertrichosis

Preferred Label : amaurosis hypertrichosis;

MeSH synonym : amaurosis congenita, Cone-Rod type, with congenital hypertrichosis; congenital amaurosis cone-rod type with congenital hypertrichosis; cone-rod congenital amaurosis associated with congenital hypertrichosis;

False MeSH synonym : jalili syndrome; cone-rod congenital amaurosis associated with congenital hypertrichosis; congenital amaurosis cone-rod type with congenital hypertrichosis;

Details

Origin ID

C536604;

UMLS CUI

C1857588;

Automatic exact mappings (from CISMeF team)
- Amaurosis - hypertrichosis [ICD-11 More detail]
- Cone-rod type amaurosis congenita – congenital hypertrichosis [ICD-11 More detail]
- Jalili syndrome [OMIM Phenotype]
CISMeF manual mappings
- Amaurosis hypertrichosis syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Amaurosis congenita, cone-rod type, with congenital hypertrichosis [OMIM Phenotype]
- Amaurosis-hypertrichosis syndrome [ORDO Disease]
False automatic mappings
- Jalili syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- hypertrichosis [MeSH Descriptor]
- leber congenital amaurosis [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
ORDO relation(s)
- Amaurosis-hypertrichosis syndrome [ORDO Disease]
Record concept(s)
- Amaurosis hypertrichosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amaurosis congenita, cone-rod type, with congenital hypertrichosis [OMIM Phenotype]
- Amaurosis-hypertrichosis syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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