OMOP Concept 4194065
Lowe syndrome
StandardConditionSNOMED79385002Disorder
Maps from
9
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
9 source codes normalize to Lowe syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 135563 | Lowe syndrome | Non-standard |
| ICD10CM | E72.03 | Lowe's syndrome | Non-standard |
| MeSH | D009800 | Oculocerebrorenal Syndrome | Non-standard |
| OXMIS | 2708LR | SYNDROME OCULOCEREBRORENAL | Non-standard |
| OXMIS | 2708LT | OCULOCEREBRORENAL DYSTROPHY | Non-standard |
| OXMIS | 2708LW | SYNDROME LOWE'S | Non-standard |
| Read | C302500 | Lowe disease | Non-standard |
| Read | C302511 | Oculocerebrorenal syndrome | Non-standard |
| Read | C302512 | Oculocerebrorenal dystrophy | Non-standard |
Synonyms
Alternative names recorded for Lowe syndrome across source vocabularies.
- Cerebro-oculorenal dystrophy
- deficiencia de fosfatidilinositol-4,5-bisfosfato-5-fosfatasa
- distrofia oculocerebrorrenal
- Lowe-Bickel syndrome
- Lowe disease
- Lowe syndrome (disorder)
- Lowe-Terrey-MacLachlan syndrome
- Oculocerebrorenal dystrophy
- Oculocerebrorenal syndrome
- Oculocerebrorenal syndrome of Lowe
- Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency
- Renal-oculocerebrodystrophy
- síndrome de Lowe
- síndrome de Lowe-Bickel
- síndrome de Lowe-Terrey-MacLachlan
- síndrome de Lowe (trastorno)
- síndrome oculocerebrorrenal
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(99)Roll up to these when you need a wider cohort.
- 1Amino acid transport disorder
- 1Congenital anomaly of brain
- 1Congenital anomaly of the kidney
- 1Congenital cataract
- 1Developmental hereditary disorder
- 1Genetic intellectual disability
- 1Hereditary disorder of nervous system
- 1Hereditary disorder of the visual system
- 1Hereditary nephropathy
- 1Metabolic renal disease
- 1Multiple malformation syndrome with unusual brain and/or neuromuscular findings
- 1Renal tubular disorder
- 1Structural abnormality of nephron
- 1X-linked recessive hereditary disease
- 2Cataract
- 2Congenital anomaly of abdomen
- 2Congenital anomaly of central nervous system
- 2Congenital anomaly of head
- 2Congenital anomaly of lens
- 2Congenital malformation of the urinary system
- 2Developmental disorder
- 2Disorder of amino acid and organic acid metabolism
- 2Disorder of brain
- 2Disorder of nervous system
- 2Disorder of renal parenchyma
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