Oculocerebral syndrome with hypopigmentation

Preferred Label : Oculocerebral syndrome with hypopigmentation;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Kramer syndrome; Cross syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : %257800;

Details

Origin ID

257800;

UMLS CUI

C2936910;

Automatic exact mappings (from CISMeF team)
- Oculocerebral syndrome with hypopigmentation [ICD-11 More detail]
Currated CISMeF NLP mapping
- Cross syndrome [MeSH concept]
- Cross syndrome (disorder) [SNOMED CT concept]
- Oculocerebral hypopigmentation syndrome, Cross type [ORDO Disease]
- cross syndrome [SNOMED Notion]
HPO term(s)
- Abnormality of the eye [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dandy-Walker malformation [HPO term]
- Growth delay [HPO term]
- Hypopigmentation of the skin [HPO term]
- Intellectual disability [HPO term]
- Silver-gray hair [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Oculocerebral hypopigmentation syndrome, Cross type [ORDO Disease]
See also inter- (CISMeF)
- oculocerebral hypopigmentation syndrome type preus [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cross syndrome (disorder) [SNOMED CT concept]
- Oculocerebral hypopigmentation syndrome, Cross type [ORDO Disease]
- cross syndrome [SNOMED Notion]

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