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2884008: Weill-Marchesani syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
5884017 Weill-Marchesani syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
5885016 Brachydactyly-spherophakia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
5886015 Marchesani's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
5887012 Brachymorphy with spherophakia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
759566011 Weill-Marchesani syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3011499012 Spherophakia-brachymorphia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
1464021000052111 Weill-Marchesanis syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Weill-Marchesani syndrome Is a Brachydactyly true Inferred relationship Some
Weill-Marchesani syndrome Is a Spherophakia true Inferred relationship Some
Weill-Marchesani syndrome Is a Skeletal dysplasia true Inferred relationship Some
Weill-Marchesani syndrome Finding site Lens clear true Inferred relationship Some 3
Weill-Marchesani syndrome Finding site Musculoskeletal system structure of digit (body structure) false Inferred relationship Some
Weill-Marchesani syndrome Associated morphology Developmental anomaly (morphologic abnormality) false Inferred relationship Some
Weill-Marchesani syndrome Finding site Skeletal system structure false Inferred relationship Some 1
Weill-Marchesani syndrome Occurrence Congenital false Inferred relationship Some
Weill-Marchesani syndrome Finding site Digit structure false Inferred relationship Some 2
Weill-Marchesani syndrome Associated morphology Congenital abnormal roundness true Inferred relationship Some 3
Weill-Marchesani syndrome Finding site Bone structure false Inferred relationship Some 1
Weill-Marchesani syndrome Associated morphology Dysplasia false Inferred relationship Some 1
Weill-Marchesani syndrome Finding site Structure of nervous system (body structure) false Inferred relationship Some
Weill-Marchesani syndrome Associated morphology Abnormally short growth false Inferred relationship Some 2
Weill-Marchesani syndrome Is a Congenital anomaly of eye false Inferred relationship Some
Weill-Marchesani syndrome Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Weill-Marchesani syndrome Finding site Limb structure false Inferred relationship Some 2
Weill-Marchesani syndrome Associated morphology kongenital dysplasi false Inferred relationship Some 1
Weill-Marchesani syndrome Associated morphology kongenital anomali false Inferred relationship Some 2
Weill-Marchesani syndrome Is a Congenital malformation false Inferred relationship Some
Weill-Marchesani syndrome Finding site Bone structure false Inferred relationship Some 1
Weill-Marchesani syndrome Associated morphology Abnormally short growth false Inferred relationship Some 2
Weill-Marchesani syndrome Finding site Digit structure false Inferred relationship Some 2
Weill-Marchesani syndrome Associated morphology Congenital abnormal roundness false Inferred relationship Some 3
Weill-Marchesani syndrome Finding site Lens clear false Inferred relationship Some 3
Weill-Marchesani syndrome Associated morphology kongenital dysplasi false Inferred relationship Some 1
Weill-Marchesani syndrome Occurrence Congenital false Inferred relationship Some 4
Weill-Marchesani syndrome Occurrence Congenital false Inferred relationship Some 5
Weill-Marchesani syndrome Occurrence Congenital false Inferred relationship Some 6
Weill-Marchesani syndrome Finding site Lens clear false Inferred relationship Some 6
Weill-Marchesani syndrome Finding site Bone structure false Inferred relationship Some 4
Weill-Marchesani syndrome Associated morphology medfödd onormal form false Inferred relationship Some 6
Weill-Marchesani syndrome Associated morphology kongenital dysplasi false Inferred relationship Some 4
Weill-Marchesani syndrome Associated morphology Abnormally short growth false Inferred relationship Some 5
Weill-Marchesani syndrome Finding site Digit structure false Inferred relationship Some 5
Weill-Marchesani syndrome Is a multisystemsjukdom false Inferred relationship Some
Weill-Marchesani syndrome Associated morphology Abnormally short growth true Inferred relationship Some 1
Weill-Marchesani syndrome Occurrence Congenital true Inferred relationship Some 1
Weill-Marchesani syndrome Finding site Entire digit true Inferred relationship Some 1
Weill-Marchesani syndrome Associated morphology Congenital abnormal roundness false Inferred relationship Some 2
Weill-Marchesani syndrome Occurrence Congenital true Inferred relationship Some 2
Weill-Marchesani syndrome Finding site Lens clear false Inferred relationship Some 2
Weill-Marchesani syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Weill-Marchesani syndrome Associated morphology kongenital dysplasi false Inferred relationship Some 2
Weill-Marchesani syndrome Finding site Bone structure true Inferred relationship Some 2
Weill-Marchesani syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Weill-Marchesani syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Weill-Marchesani syndrome Occurrence Congenital true Inferred relationship Some 3
Weill-Marchesani syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Weill-Marchesani syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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