FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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
4727521000172112 syndroom van Knobloch-Layer nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4727531000172110 syndroom van netvliesloslating en occipitale encefalokèle nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4727541000172115 syndroom van ablatio retinae en occipitale encephalocele nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4727551000172118 syndroom van Knobloch nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start