Cockayne syndrome, type iii

Preferred Label : Cockayne syndrome, type iii;

Obsolete resource : true;

Moved to : 216400;

Alternative titles and symbols : Cs, type c;

Inheritance : Autosomal recessive;

Prefixed ID : 216411;

Details

Origin ID

216411;

UMLS CUI

C0751037;

Automatic exact mappings (from CISMeF team)
- cockayne syndrome [MeSH Descriptor]
- cockayne syndrome, type II [MeSH concept]
Broader ORDO disease(s)
- Cockayne syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cockayne syndrome type 3 [ICD-11 More detail]
- Cockayne syndrome type 3 [ORDO Disease]
- Cockayne syndrome type 3 (disorder) [SNOMED CT concept]
- cockayne syndrome, type III [MeSH concept]
HPO term(s)
- Abnormal myelination [HPO term]
- Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination [HPO term]
- Dwarfism [HPO term]
- Large hands and feet [HPO term]
- Salt and pepper retinal pigmentation [HPO term]
ORDO concept(s)
- Cockayne syndrome [ORDO Disease]
- Cockayne syndrome type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cockayne syndrome type 3 [ORDO Disease]
- Cockayne syndrome type 3 (disorder) [SNOMED CT concept]
- cockayne syndrome, type III [MeSH concept]

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