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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 Reference Sets
3331765016 Congenital cataract, nephropathy, encephalopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3331766015 Congenital cataract, nephropathy, encephalopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3331767012 Crome syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3916571000052118 Cromes syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

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) true 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 medfödd katarakt 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 (morphologic abnormality) 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
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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