FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
3331765016 Congenital cataract, nephropathy, encephalopathy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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
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
602121000274115 Crome-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432441001000111 Katarakt-Nephropathie-Enzephalopathie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5845961000241115 syndrome de Crome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5845971000241111 syndrome de cataracte congénitale, néphropathie et encéphalopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5845961000241115 syndrome de Crome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5845971000241111 syndrome de cataracte congénitale, néphropathie et encéphalopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602121000274115 Crome-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432441001000111 Katarakt-Nephropathie-Enzephalopathie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Crome syndrome Is a Congenital cataract true Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Is a Disorder of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Is a Renal tubular disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Is a Renal cortical necrosis true Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Associated morphology Necrosis false Inferred relationship Existential restriction modifier (core metadata concept) 3
Crome syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Crome syndrome Finding site Renal tubule structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Crome syndrome Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier (core metadata concept) 4
Crome syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Crome syndrome Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Crome syndrome Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Crome syndrome Is a Congenital anomaly of the kidney true Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Crome syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Crome syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Crome syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Crome syndrome Finding site Renal tubule structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Crome syndrome Associated morphology Necrosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Crome syndrome Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Crome syndrome Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 3
Crome syndrome Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 3
Crome syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Crome syndrome Is a Traumatic or nontraumatic brain injury true Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Is a Injury of lens (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start