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268262006: Acrocephalosyndactyly (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
400910012 Acrocephalosyndactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
660982014 Acrocephalosyndactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
885581000172119 acro-céphalo-syndactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
999081000172119 ACS - acro-céphalo-syndactylie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
957401000172116 ACS - acrocefalosyndactylie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
969521000172112 acrocefalosyndactylie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)

12 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acrocephalosyndactyly Is a Multisystem disorder A-B false Inferred relationship Some
Acrocephalosyndactyly Is a Multisystem disorder false Inferred relationship Some
Acrocephalosyndactyly Is a Multiple congenital malformations false Inferred relationship Some
Acrocephalosyndactyly Associated morphology Congenital malformation false Inferred relationship Some
Acrocephalosyndactyly Occurrence Congenital false Inferred relationship Some 3
Acrocephalosyndactyly Occurrence Congenital true Inferred relationship Some 2
Acrocephalosyndactyly Is a Congenital malformation syndrome (disorder) false Inferred relationship Some
Acrocephalosyndactyly Associated morphology Developmental anomaly false Inferred relationship Some 1
Acrocephalosyndactyly Occurrence Congenital true Inferred relationship Some 1
Acrocephalosyndactyly Associated morphology Congenital premature fusion true Inferred relationship Some 2
Acrocephalosyndactyly Finding site Joint structure of suture of skull true Inferred relationship Some 2
Acrocephalosyndactyly Is a Craniosynostosis syndrome true Inferred relationship Some
Acrocephalosyndactyly Is a Syndactyly (disorder) true Inferred relationship Some
Acrocephalosyndactyly Finding site Bone structure of cranium false Inferred relationship Some
Acrocephalosyndactyly Associated morphology Congenital abnormal fusion false Inferred relationship Some 2
Acrocephalosyndactyly Finding site Digit structure false Inferred relationship Some 2
Acrocephalosyndactyly Associated morphology Congenital premature fusion false Inferred relationship Some 3
Acrocephalosyndactyly Finding site Joint structure of suture of skull false Inferred relationship Some 3
Acrocephalosyndactyly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Acrocephalosyndactyly Associated morphology Congenital abnormal fusion true Inferred relationship Some 1
Acrocephalosyndactyly Finding site Digit structure true Inferred relationship Some 1
Acrocephalosyndactyly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Acrocephalosyndactyly Is a Genetic disease true Inferred relationship Some
Acrocephalosyndactyly Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Acrocephalosyndactyly type I Is a True Acrocephalosyndactyly Inferred relationship Some
Acrocephalosyndactyly (Pfeiffer) Is a False Acrocephalosyndactyly Inferred relationship Some
Acrocephalopolysyndactyly Is a True Acrocephalosyndactyly Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a True Acrocephalosyndactyly Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Is a False Acrocephalosyndactyly Inferred relationship Some
Curry Jones syndrome Is a False Acrocephalosyndactyly Inferred relationship Some
Saethre-Chotzen syndrome Is a True Acrocephalosyndactyly Inferred relationship Some
Summitt syndrome Is a True Acrocephalosyndactyly Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) Is a False Acrocephalosyndactyly Inferred relationship Some
Jackson-Weiss syndrome Is a True Acrocephalosyndactyly Inferred relationship Some

This concept is not in any reference sets

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