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720415006: Acrorenoocular 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
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
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) localisation d'une constatation (attribut) structure d'un rein true Inferred relationship Some 2
Acrorenoocular syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Acrorenoocular syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Acrorenoocular syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Acrorenoocular syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Acrorenoocular syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Acrorenoocular syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Acrorenoocular syndrome (disorder) localisation d'une constatation (attribut) radius (structure corporelle) 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) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) Congenital anomaly of eye true Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) anomalie congénitale des reins true Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) Congenital anomaly of radius true Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Acrorenoocular syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Acrorenoocular syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Acrorenoocular syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Acrorenoocular syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Acrorenoocular syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Acrorenoocular syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Acrorenoocular syndrome (disorder) localisation d'une constatation (attribut) Structure of eye proper (body structure) false Inferred relationship Some 5
Acrorenoocular syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein false Inferred relationship Some 3
Acrorenoocular syndrome (disorder) localisation d'une constatation (attribut) Structure of eye proper (body structure) true Inferred relationship Some 3
Acrorenoocular syndrome (disorder) localisation d'une constatation (attribut) radius (structure corporelle) false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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