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722383001: Catel Manzke 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
3331772015 Catel Manzke syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331773013 Catel Manzke syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331776017 Micrognathia digital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331777014 Palatodigital syndrome Catel-Manzke type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5402905012 Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402906013 Catel-Manzke syndrome is a rare bone disease characterised by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. 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
Catel Manzke syndrome (disorder) Is a Congenital anomaly of finger true Inferred relationship Some
Catel Manzke syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Catel Manzke syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Catel Manzke syndrome (disorder) Is a Dysostosis true Inferred relationship Some
Catel Manzke syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Catel Manzke syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Catel Manzke syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
Catel Manzke syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Catel Manzke syndrome (disorder) Finding site Index finger structure true Inferred relationship Some 2
Catel Manzke syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Catel Manzke syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Catel Manzke syndrome (disorder) Finding site Bone structure false Inferred relationship Some 3
Catel Manzke syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Catel Manzke syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Catel Manzke syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Catel Manzke syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Catel Manzke syndrome (disorder) Finding site Bone structure true Inferred relationship Some 1
Catel Manzke syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Catel Manzke syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Catel Manzke syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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