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722381004: Congenital cataract, nephropathy, encephalopathy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331765016 Congenital cataract, nephropathy, encephalopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331766015 Congenital cataract, nephropathy, encephalopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331767012 Crome syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402902010 A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963. en Definition 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
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Congenital cataract true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Disorder of brain (disorder) false Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Renal tubular disorder true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Necrosis of cortex of kidney (disorder) true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Finding site Brain structure false Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Associated morphology Necrosis false Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Finding site Renal tubule structure (body structure) false Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Some 4
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Finding site Lens clear false Inferred relationship Some 4
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Finding site Lens clear true Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Congenital anomaly of the kidney true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Finding site Renal tubule structure (body structure) true Inferred relationship Some 1
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Associated morphology Necrosis true Inferred relationship Some 1
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Finding site Brain structure true Inferred relationship Some 2
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Associated morphology Cataract false Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 4
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Traumatic or nontraumatic brain injury true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a Injury of lens true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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