FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

79385002: Lowe syndrome (disorder)

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

Descriptions:

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

0 descendants.

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

This concept is not in any reference sets

Back to Start