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703542000: Retinal detachment and occipital encephalocele (disorder)


Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3009167015 Retinal detachment and occipital encephalocele en Synonym Active Case insensitive SNOMED CT core
3009293017 Knobloch syndrome en Synonym Active Case sensitive SNOMED CT core
3009395014 Retinal detachment and occipital encephalocoele en Synonym Active Case insensitive SNOMED CT core
3009400010 Retinal detachment and occipital encephalocele (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Retinal detachment and occipital encephalocoele Pathological process Pathological developmental process true Inferred relationship Some 3
Retinal detachment and occipital encephalocoele Finding site Occipital lobe structure false Inferred relationship Some 3
Retinal detachment and occipital encephalocoele Pathological process Pathological developmental process false Inferred relationship Some 5
Retinal detachment and occipital encephalocoele Associated morphology Congenital protrusion false Inferred relationship Some 3
Retinal detachment and occipital encephalocoele Pathological process Pathological developmental process true Inferred relationship Some 4
Retinal detachment and occipital encephalocoele Occurrence Congenital true Inferred relationship Some 4
Retinal detachment and occipital encephalocoele Associated morphology Morphologically abnormal structure false Inferred relationship Some 4
Retinal detachment and occipital encephalocoele Associated morphology Congenital failure of fusion with herniated tissue false Inferred relationship Some 5
Retinal detachment and occipital encephalocoele Finding site Bone structure of cranium false Inferred relationship Some 5
Retinal detachment and occipital encephalocoele Occurrence Congenital true Inferred relationship Some 3
Retinal detachment and occipital encephalocoele Finding site Occipital lobe structure false Inferred relationship Some 4
Retinal detachment and occipital encephalocoele Finding site Bone structure of head false Inferred relationship Some 4
Retinal detachment and occipital encephalocoele Associated morphology Hernia false Inferred relationship Some 4
Retinal detachment and occipital encephalocoele Associated morphology Developmental failure of fusion false Inferred relationship Some 3
Retinal detachment and occipital encephalocoele Finding site Bone structure of cranium false Inferred relationship Some 3
Retinal detachment and occipital encephalocoele Is a Degenerative disorder of macula true Inferred relationship Some
Retinal detachment and occipital encephalocoele Associated morphology Degenerative abnormality true Inferred relationship Some 1
Retinal detachment and occipital encephalocoele Finding site Vitreous body structure true Inferred relationship Some 5
Retinal detachment and occipital encephalocoele Finding site Macula lutea structure true Inferred relationship Some 1
Retinal detachment and occipital encephalocoele Associated morphology Atrophy true Inferred relationship Some 5
Retinal detachment and occipital encephalocoele Is a Musculoskeletal and connective tissue disorder true Inferred relationship Some
Retinal detachment and occipital encephalocoele Associated morphology Hernia true Inferred relationship Some 3
Retinal detachment and occipital encephalocoele Finding site Brain structure true Inferred relationship Some 3
Retinal detachment and occipital encephalocoele Associated morphology Developmental failure of fusion true Inferred relationship Some 4
Retinal detachment and occipital encephalocoele Finding site Structure of occipitomastoid suture of skull true Inferred relationship Some 4
Retinal detachment and occipital encephalocoele Is a Developmental hereditary disorder true Inferred relationship Some
Retinal detachment and occipital encephalocoele Is a Inherited disorder of connective tissue true Inferred relationship Some
Retinal detachment and occipital encephalocoele Is a Vitreoretinal degeneration true Inferred relationship Some
Retinal detachment and occipital encephalocoele Is a Hereditary disorder of the visual system true Inferred relationship Some
Retinal detachment and occipital encephalocoele Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Retinal detachment and occipital encephalocoele Is a Occipital encephalocele true Inferred relationship Some
Retinal detachment and occipital encephalocoele Is a Hereditary disorder of nervous system true Inferred relationship Some
Retinal detachment and occipital encephalocoele Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Retinal detachment and occipital encephalocoele Occurrence Congenital false Inferred relationship Some 10
Retinal detachment and occipital encephalocoele Associated morphology Developmental abnormality false Inferred relationship Some 10
Retinal detachment and occipital encephalocoele Finding site Brain structure false Inferred relationship Some 10
Retinal detachment and occipital encephalocoele Associated morphology Degeneration false Inferred relationship Some 6
Retinal detachment and occipital encephalocoele Finding site Vitreous body structure false Inferred relationship Some 6
Retinal detachment and occipital encephalocoele Associated morphology Congenital protrusion false Inferred relationship Some 7
Retinal detachment and occipital encephalocoele Finding site Occipital lobe structure false Inferred relationship Some 7
Retinal detachment and occipital encephalocoele Associated morphology Congenital failure of fusion with herniated tissue false Inferred relationship Some 8
Retinal detachment and occipital encephalocoele Finding site Bone structure of cranium false Inferred relationship Some 8
Retinal detachment and occipital encephalocoele Associated morphology Atrophy true Inferred relationship Some 9
Retinal detachment and occipital encephalocoele Finding site Peripheral retina true Inferred relationship Some 9
Retinal detachment and occipital encephalocoele Occurrence Congenital false Inferred relationship Some 11
Retinal detachment and occipital encephalocoele Associated morphology Developmental abnormality false Inferred relationship Some 11
Retinal detachment and occipital encephalocoele Finding site Bone structure of head false Inferred relationship Some 11

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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