Oculocerebrorenal syndrome

ICD-11 code : 5C60.0;

Preferred Label : Oculocerebrorenal syndrome;

ICD-11 definition : Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.;

ICD-11 synonym : Lowe disease; Cerebro-oculorenal dystrophy; OCRL1 - [Oculocerebrorenal syndrome]; Lowe syndrome; Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency; Lowe oculocerebrorenal syndrome; Oculocerebrorenal dystrophy;

ICD-11 acronym : OCRL1;

Details

Origin ID

1392767390;

UMLS CUI

C0028860;

Automatic exact mappings (from CISMeF team)
- OCRL inositol polyphosphate-5-phosphatase [ORDO Gene]
- OCRL1 [LOINC component]
- Ocrl inositol polyphosphate-5-phosphatase [OMIM gene]
- phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase deficiency [MeSH concept]
Currated CISMeF NLP mapping
- Lowe oculocerebrorenal syndrome [OMIM Phenotype]
- Lowe syndrome [PASCAL descriptor]
- Lowe syndrome [Disease (Nov.)]
- Lowe syndrome (disorder) [SNOMED CT concept]
- Lowe's syndrome [MedDRA LLT]
- Oculocerebrorenal Syndrome [NCIt concept]
- Oculocerebrorenal syndrome [MedDRA Preferred Term]
- Oculocerebrorenal syndrome of Lowe [ORDO Disease]
- Renal ocular syndrome (disorder) [SNOMED CT concept]
- lowe syndrome [SNOMED Notion]
- oculocerebrorenal syndrome [DO Concept]
- oculocerebrorenal syndrome [MeSH concept]
- oculocerebrorenal syndrome [MeSH Descriptor]
ICD-10 Mapping
- Disorders of amino-acid transport [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lowe oculocerebrorenal syndrome [OMIM Phenotype]
- Lowe syndrome [Disease (Nov.)]
- Lowe syndrome [PASCAL descriptor]
- Lowe syndrome (disorder) [SNOMED CT concept]
- Lowe's syndrome [MedDRA LLT]
- Oculocerebrorenal Syndrome [NCIt concept]
- Oculocerebrorenal syndrome [MedDRA Preferred Term]
- Oculocerebrorenal syndrome of Lowe [ORDO Disease]
- lowe syndrome [SNOMED Notion]
- oculocerebrorenal syndrome [DO Concept]
- oculocerebrorenal syndrome [MeSH Descriptor]
- oculocerebrorenal syndrome [MeSH concept]
Validated automatic mappings to NTBT
- Disorders of amino-acid transport [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

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