79385002: Lowe-syndroom (aandoening)

\Metabolic renal disease\Lowe syndrome

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Lowe syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Lowe syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Lowe syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Lowe syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Lowe syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Lowe syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Lowe syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Lowe syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lowe syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Lowe syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lowe syndrome

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Lowe syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Lowe syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Lowe syndrome

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

Descriptions:

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	Some
Lowe syndrome	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Lowe syndrome	Is a	Metabolic renal disease	true	Inferred relationship	Some
Lowe syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Lowe syndrome	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Some
Lowe syndrome	Is a	Amino acid transport disorder	true	Inferred relationship	Some
Lowe syndrome	Finding site	Kidney structure	false	Inferred relationship	Some	2
Lowe syndrome	Finding site	Brain structure	true	Inferred relationship	Some	1
Lowe syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Lowe syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Lowe syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Lowe syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Lowe syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Lowe syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Lowe syndrome	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Some
Lowe syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Lowe syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Lowe syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Lowe syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Lowe syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	3
Lowe syndrome	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Lowe syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Lowe syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Lowe syndrome	Is a	Renal tubular disorder	true	Inferred relationship	Some
Lowe syndrome	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Lowe syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Lowe syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Lowe syndrome	Is a	Congenital anomaly of brain	true	Inferred relationship	Some
Lowe syndrome	Finding site	Renal tubule structure (body structure)	true	Inferred relationship	Some	2
Lowe syndrome	Finding site	Eye structure	false	Inferred relationship	Some	3
Lowe syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lowe syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Lowe syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Lowe syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Lowe syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Lowe syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Lowe syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Lowe syndrome	Finding site	Lens clear	true	Inferred relationship	Some	3
Lowe syndrome	Associated morphology	Opacity	true	Inferred relationship	Some	3
Lowe syndrome	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

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

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
131703019	Lowe syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
131704013	Oculocerebrorenal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
131705014	Renal-oculocerebrodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
131706010	Lowe-Terrey-MacLachlan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
131707018	Lowe-Bickel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
820429012	Lowe syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1234349019	Oculocerebrorenal dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1234350019	Cerebro-oculorenal dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1234352010	Lowe disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1234353017	Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789845014	Oculocerebrorenal syndrome of Lowe	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
358421000146110	syndroom van Lowe	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10669701000146110	Lowe-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10669711000146112	Lowe-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12717851000146113	Erfelijke aandoening met als kenmerken een verstandelijke beperking, oogafwijkingen, onvoldoende spanning van de spieren en een ophoping van zuren in de nieren.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)