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703542000: Retinal detachment and occipital encephalocele (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3009167015 Retinal detachment and occipital encephalocele en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009293017 Knobloch syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3009395014 Retinal detachment and occipital encephalocoele en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009400010 Retinal detachment and occipital encephalocele (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3788233015 Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3009167015 Retinal detachment and occipital encephalocele en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3009167015 Retinal detachment and occipital encephalocele en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009293017 Knobloch syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3009395014 Retinal detachment and occipital encephalocoele en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3009395014 Retinal detachment and occipital encephalocoele en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009400010 Retinal detachment and occipital encephalocele (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3009400010 Retinal detachment and occipital encephalocele (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3788233015 Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
650811000274111 Netzhautablösung und okzipitale Enzephalozele de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3416921001000115 Knobloch-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
650811000274111 Netzhautablösung und okzipitale Enzephalozele de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3416921001000115 Knobloch-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
Retinal detachment and occipital encephalocele Is a Connective tissue hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal detachment and occipital encephalocele Is a Vitreoretinal degeneration true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal detachment and occipital encephalocele Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal detachment and occipital encephalocele Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal detachment and occipital encephalocele Is a Occipital encephalocele true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal detachment and occipital encephalocele Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal detachment and occipital encephalocele Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal detachment and occipital encephalocele Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 10
Retinal detachment and occipital encephalocele Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 10
Retinal detachment and occipital encephalocele Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 10
Retinal detachment and occipital encephalocele Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 6
Retinal detachment and occipital encephalocele Finding site Vitreous body structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Retinal detachment and occipital encephalocele Associated morphology Congenital protrusion false Inferred relationship Existential restriction modifier (core metadata concept) 7
Retinal detachment and occipital encephalocele Finding site Occipital lobe structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Retinal detachment and occipital encephalocele Associated morphology Congenital failure of fusion with herniated tissue false Inferred relationship Existential restriction modifier (core metadata concept) 8
Retinal detachment and occipital encephalocele Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 8
Retinal detachment and occipital encephalocele Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 9
Retinal detachment and occipital encephalocele Finding site Peripheral retina true Inferred relationship Existential restriction modifier (core metadata concept) 9
Retinal detachment and occipital encephalocele Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 11
Retinal detachment and occipital encephalocele Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 11
Retinal detachment and occipital encephalocele Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 11
Retinal detachment and occipital encephalocele Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinal detachment and occipital encephalocele Finding site Occipital lobe structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinal detachment and occipital encephalocele Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Retinal detachment and occipital encephalocele Associated morphology Congenital protrusion false Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinal detachment and occipital encephalocele Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Retinal detachment and occipital encephalocele Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Retinal detachment and occipital encephalocele Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Retinal detachment and occipital encephalocele Associated morphology Congenital failure of fusion with herniated tissue false Inferred relationship Existential restriction modifier (core metadata concept) 5
Retinal detachment and occipital encephalocele Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 5
Retinal detachment and occipital encephalocele Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinal detachment and occipital encephalocele Finding site Occipital lobe structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Retinal detachment and occipital encephalocele Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 4
Retinal detachment and occipital encephalocele Associated morphology Herniated structure (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Retinal detachment and occipital encephalocele Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinal detachment and occipital encephalocele Finding site Bone structure of cranium true Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinal detachment and occipital encephalocele Is a Degenerative disorder of macula (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal detachment and occipital encephalocele Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal detachment and occipital encephalocele Finding site Vitreous body structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Retinal detachment and occipital encephalocele Finding site Macula lutea structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal detachment and occipital encephalocele Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 5
Retinal detachment and occipital encephalocele Is a Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal detachment and occipital encephalocele Associated morphology Herniated structure (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinal detachment and occipital encephalocele Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinal detachment and occipital encephalocele Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Retinal detachment and occipital encephalocele Finding site Structure of occipitomastoid suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 4
Retinal detachment and occipital encephalocele Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal detachment and occipital encephalocele Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Retinal detachment and occipital encephalocele Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Retinal detachment and occipital encephalocele Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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