Ichthyosis, mental retardation, dwarfism, and renal impairment

Preferred Label : Ichthyosis, mental retardation, dwarfism, and renal impairment;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0530735;

UMLS CUI

C1855787;

Currated CISMeF NLP mapping
- Ichthyosis, impaired intellectual development, dwarfism, and renal impairment [OMIM Phenotype]
- Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) [SNOMED CT concept]
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Congenital ichthyosis [HPO term]
- Congenital non-bullous ichthyosis [HPO term]
- Dwarfism [HPO term]
- Ichthyosis [HPO term]
- Reduced creatinine clearance [HPO term]
Related record
- ichthyosis, mental retardation, dwarfism, and renal impairment [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis, impaired intellectual development, dwarfism, and renal impairment [OMIM Phenotype]
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome [ORDO Disease]