Ichthyosis, impaired intellectual development, dwarfism, and renal impairment

Preferred Label : Ichthyosis, impaired intellectual development, dwarfism, and renal impairment;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Ichthyosis, mental retardation, dwarfism, and renal impairment;

Inheritance : Autosomal recessive;

Prefixed ID : 242530;

Details

Origin ID

242530;

UMLS CUI

C1855787;

Currated CISMeF NLP mapping
- Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) [SNOMED CT concept]
- Ichthyosis, mental retardation, dwarfism, and renal impairment [MeSH concept]
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome [ORDO Disease]
- ichthyosis, mental retardation, dwarfism, and renal impairment [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital ichthyosis [HPO term]
- Congenital non-bullous ichthyosis [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Decreased glomerular filtration rate [HPO term]
- Dwarfism [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
- Nephropathy [HPO term]
- Reduced creatinine clearance [HPO term]
- Severe short stature [HPO term]
ORDO concept(s)
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis, mental retardation, dwarfism, and renal impairment [MeSH concept]
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome [ORDO Disease]
- ichthyosis, mental retardation, dwarfism, and renal impairment [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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