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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
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
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
3789845014 Oculocerebrorenal syndrome of Lowe en Synonym (core metadata concept) Active Only initial character case insensitive (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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lowe syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lowe syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Lowe syndrome est un(e) (attribut) anomalie congénitale des reins true Inferred relationship Some
Lowe syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Lowe syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Lowe syndrome est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
Lowe syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Lowe syndrome morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 3
Lowe syndrome est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Lowe syndrome est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Lowe syndrome est un(e) (attribut) Intellectual disability true Inferred relationship Some
Lowe syndrome est un(e) (attribut) Renal tubular disorder true Inferred relationship Some
Lowe syndrome est un(e) (attribut) Congenital anomaly of eye false Inferred relationship Some
Lowe syndrome survenue (attribut) congénital true Inferred relationship Some 2
Lowe syndrome survenue (attribut) congénital true Inferred relationship Some 3
Lowe syndrome est un(e) (attribut) anomalie congénitale de l'encéphale true Inferred relationship Some
Lowe syndrome localisation d'une constatation (attribut) Renal tubule structure true Inferred relationship Some 2
Lowe syndrome localisation d'une constatation (attribut) Structure of eye proper (body structure) false Inferred relationship Some 3
Lowe syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Lowe syndrome est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
Lowe syndrome est un(e) (attribut) Congenital cataract true Inferred relationship Some
Lowe syndrome localisation d'une constatation (attribut) cristallin true Inferred relationship Some 3
Lowe syndrome morphologie associée (attribut) opacité true Inferred relationship Some 3
Lowe syndrome morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Lowe syndrome est un(e) (attribut) Multiple malformation syndrome with unusual brain and/or neuromuscular findings true Inferred relationship Some
Lowe syndrome est un(e) (attribut) Congenital anomaly of trunk false Inferred relationship Some
Lowe syndrome est un(e) (attribut) maladie métabolique du rein true Inferred relationship Some
Lowe syndrome est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Lowe syndrome est un(e) (attribut) Hereditary disorder of the urinary system false Inferred relationship Some
Lowe syndrome est un(e) (attribut) Amino acid transport disorder true Inferred relationship Some
Lowe syndrome survenue (attribut) congénital true Inferred relationship Some 1
Lowe syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Lowe syndrome localisation d'une constatation (attribut) structure d'un rein false Inferred relationship Some 2
Lowe syndrome localisation d'une constatation (attribut) structure de l'encéphale true Inferred relationship Some 1
Lowe syndrome survenue (attribut) congénital 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

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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