79385002: Lowe syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy\Lowe syndrome

\Disorder of renal parenchyma\Renal tubular disorder\Lowe syndrome

\Metabolic renal disease\Lowe syndrome

\Congenital anomaly of the kidney\Lowe syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Lowe syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lowe syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lowe syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Lowe syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lowe syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Lowe syndrome
\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Lowe syndrome
\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Lowe syndrome
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Lowe syndrome
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Lowe syndrome
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Lowe syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lowe syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Lowe syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Lowe syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Lowe syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Lowe syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Lowe syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

131703019 Lowe syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

131704013 Oculocerebrorenal syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

131705014 Renal-oculocerebrodystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

131706010 Lowe-Terrey-MacLachlan syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

131707018 Lowe-Bickel syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

820429012 Lowe syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

1234349019 Oculocerebrorenal dystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

1234350019 Cerebro-oculorenal dystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

1234352010 Lowe disease en Synonym Active Entire term case sensitive SNOMED CT core module

1234353017 Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

3789845014 Oculocerebrorenal syndrome of Lowe en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lowe syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Existential restriction modifier
Lowe syndrome	Is a	Congenital anomaly of trunk	false	Inferred relationship	Existential restriction modifier
Lowe syndrome	Is a	Metabolic renal disease	true	Inferred relationship	Existential restriction modifier
Lowe syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Lowe syndrome	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Existential restriction modifier
Lowe syndrome	Is a	Amino acid transport disorder	true	Inferred relationship	Existential restriction modifier
Lowe syndrome	Finding site	Kidney structure	false	Inferred relationship	Existential restriction modifier	2
Lowe syndrome	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	1
Lowe syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Lowe syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Lowe syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Lowe syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Lowe syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Lowe syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Lowe syndrome	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Existential restriction modifier
Lowe syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Lowe syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Lowe syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Lowe syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Lowe syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier	3
Lowe syndrome	Is a	Hereditary nephropathy	true	Inferred relationship	Existential restriction modifier
Lowe syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Lowe syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Lowe syndrome	Is a	Renal tubular disorder	true	Inferred relationship	Existential restriction modifier
Lowe syndrome	Is a	Congenital anomaly of eye	false	Inferred relationship	Existential restriction modifier
Lowe syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Lowe syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Lowe syndrome	Is a	Congenital anomaly of brain	true	Inferred relationship	Existential restriction modifier
Lowe syndrome	Finding site	Renal tubule structure	true	Inferred relationship	Existential restriction modifier	2
Lowe syndrome	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	3
Lowe syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Lowe syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
Lowe syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
Lowe syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Lowe syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Lowe syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Lowe syndrome	Is a	Congenital cataract	true	Inferred relationship	Existential restriction modifier
Lowe syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Existential restriction modifier	3
Lowe syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glaucoma due to Lowe syndrome	Due to	True	Lowe syndrome	Inferred relationship	Existential restriction modifier	2

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
131703019	Lowe syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
131704013	Oculocerebrorenal syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
131705014	Renal-oculocerebrodystrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
131706010	Lowe-Terrey-MacLachlan syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
131707018	Lowe-Bickel syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
820429012	Lowe syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
1234349019	Oculocerebrorenal dystrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1234350019	Cerebro-oculorenal dystrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1234352010	Lowe disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1234353017	Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3789845014	Oculocerebrorenal syndrome of Lowe	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module