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726619004: Ptosis, strabismus, ectopic pupil syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3451026018 Ptosis, strabismus, ectopic pupil syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451027010 Ptosis, strabismus, ectopic pupil syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451028017 McPherson Hall syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403561017 A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403562012 A rare disorder characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3451026018 Ptosis, strabismus, ectopic pupil syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451027010 Ptosis, strabismus, ectopic pupil syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451028017 McPherson Hall syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3451029013 Syndrome with the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403561017 A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403562012 A rare disorder characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
602971000274119 Mcpherson-Hall-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602981000274117 Syndrom mit Ptosis, Strabismus und ektopischen Pupillen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420121001000111 Ptosis - Strabismus - ektopische Pupillen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
999581000172114 syndrome de McPherson-Hall fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1015271000172117 syndrome de ptosis-strabisme-pupilles ectopiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
999581000172114 syndrome de McPherson-Hall fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1015271000172117 syndrome de ptosis-strabisme-pupilles ectopiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602971000274119 Mcpherson-Hall-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602981000274117 Syndrom mit Ptosis, Strabismus und ektopischen Pupillen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420121001000111 Ptosis - Strabismus - ektopische Pupillen 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
Ptosis, strabismus, ectopic pupil syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ptosis, strabismus, ectopic pupil syndrome (disorder) Is a Congenital strabismus true Inferred relationship Existential restriction modifier (core metadata concept)
Ptosis, strabismus, ectopic pupil syndrome (disorder) Is a Congenital ptosis true Inferred relationship Existential restriction modifier (core metadata concept)
Ptosis, strabismus, ectopic pupil syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ptosis, strabismus, ectopic pupil syndrome (disorder) Is a Congenital ectopic pupil (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ptosis, strabismus, ectopic pupil syndrome (disorder) Associated morphology Congenital ectopia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ptosis, strabismus, ectopic pupil syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ptosis, strabismus, ectopic pupil syndrome (disorder) Finding site Pupil structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ptosis, strabismus, ectopic pupil syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ptosis, strabismus, ectopic pupil syndrome (disorder) Associated morphology Congenital prolapse false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ptosis, strabismus, ectopic pupil syndrome (disorder) Finding site Upper eyelid structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ptosis, strabismus, ectopic pupil syndrome (disorder) Associated morphology Congenital ectopia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ptosis, strabismus, ectopic pupil syndrome (disorder) Finding site Pupil structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ptosis, strabismus, ectopic pupil syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ptosis, strabismus, ectopic pupil syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ptosis, strabismus, ectopic pupil syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ptosis, strabismus, ectopic pupil syndrome (disorder) Finding site Upper eyelid structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ptosis, strabismus, ectopic pupil syndrome (disorder) Associated morphology Prolapse true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ptosis, strabismus, ectopic pupil syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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