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720415006: acrorenaal-oculair syndroom (aandoening)


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
3320684011 Acrorenoocular syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320685012 Acrorenoocular syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320686013 Acro-renal-ocular syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6994811000146111 acrorenaal-oculair syndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8293101000146114 acrorenaal-oculair syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3320687016 A syndrome of multiple congenital anomalies with characteristics of radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula) and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis and Duane anomaly).The phenotype overlaps with related disorders including Okihiro syndrome and Holt-Oram syndrome. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acrorenoocular syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Acrorenoocular syndrome (disorder) Is a Congenital anomaly of eye true Inferred relationship Some
Acrorenoocular syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Acrorenoocular syndrome (disorder) Is a Congenital anomaly of the kidney true Inferred relationship Some
Acrorenoocular syndrome (disorder) Is a Congenital anomaly of radius true Inferred relationship Some
Acrorenoocular syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Acrorenoocular syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Acrorenoocular syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Acrorenoocular syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Acrorenoocular syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Acrorenoocular syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Acrorenoocular syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Acrorenoocular syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Acrorenoocular syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Acrorenoocular syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Acrorenoocular syndrome (disorder) Finding site Eye structure false Inferred relationship Some 5
Acrorenoocular syndrome (disorder) Finding site Kidney structure false Inferred relationship Some 3
Acrorenoocular syndrome (disorder) Finding site Eye structure true Inferred relationship Some 3
Acrorenoocular syndrome (disorder) Finding site Bone structure of radius (body structure) false Inferred relationship Some 4
Acrorenoocular syndrome (disorder) Finding site Kidney structure true Inferred relationship Some 2
Acrorenoocular syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Acrorenoocular syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Acrorenoocular syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Acrorenoocular syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Acrorenoocular syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Acrorenoocular syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Acrorenoocular syndrome (disorder) Finding site Bone structure of radius (body structure) true Inferred relationship Some 1
Acrorenoocular syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Acrorenoocular syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Acrorenoocular syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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