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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3331766015 Congenital cataract, nephropathy, encephalopathy syndrome en Synonym Active Case insensitive SNOMED CT core
3331767012 Crome syndrome en Synonym Active Case sensitive SNOMED CT core
3331768019 A lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits and postmortem confirmation of nephropathy (renal tubular necrosis). The combination has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital cataract, nephropathy, encephalopathy syndrome Is a Congenital anomaly of the kidney true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Congenital cataract, nephropathy, encephalopathy syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital cataract, nephropathy, encephalopathy syndrome Occurrence Congenital true Inferred relationship Some 1
Congenital cataract, nephropathy, encephalopathy syndrome Finding site Renal tubule structure true Inferred relationship Some 1
Congenital cataract, nephropathy, encephalopathy syndrome Associated morphology Necrosis true Inferred relationship Some 1
Congenital cataract, nephropathy, encephalopathy syndrome Finding site Brain structure true Inferred relationship Some 2
Congenital cataract, nephropathy, encephalopathy syndrome Associated morphology Cataract false Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome Associated morphology Abnormally opaque structure true Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Interprets Height / growth measure true Inferred relationship Some 4
Congenital cataract, nephropathy, encephalopathy syndrome Is a Traumatic or nontraumatic brain injury true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a Injury of lens true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a Congenital cataract true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a Encephalopathy false Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a Renal tubular disorder true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a Short stature disorder true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a Renal cortical necrosis true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a Hereditary nephropathy true Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Finding site Brain structure false Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Associated morphology Necrosis false Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome Occurrence Congenital true Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome Finding site Renal tubule structure false Inferred relationship Some 3
Congenital cataract, nephropathy, encephalopathy syndrome Associated morphology Congenital cataract false Inferred relationship Some 4
Congenital cataract, nephropathy, encephalopathy syndrome Occurrence Congenital false Inferred relationship Some 4
Congenital cataract, nephropathy, encephalopathy syndrome Finding site Structure of lens of eye false Inferred relationship Some 4
Congenital cataract, nephropathy, encephalopathy syndrome Finding site Structure of lens of eye true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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