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719946008: Tel Hashomer camptodactyly 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
3318551015 Tel Hashomer camptodactyly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318552010 Tel Hashomer camptodactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402273013 Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402274019 Tel Hashomer camptodactyly syndrome is a rare syndrome characterised by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. 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
Tel Hashomer camptodactyly syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Tel Hashomer camptodactyly syndrome (disorder) Is a Camptodactyly true Inferred relationship Some
Tel Hashomer camptodactyly syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Tel Hashomer camptodactyly syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Tel Hashomer camptodactyly syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Tel Hashomer camptodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Tel Hashomer camptodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Tel Hashomer camptodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Tel Hashomer camptodactyly syndrome (disorder) Finding site Finger structure false Inferred relationship Some 4
Tel Hashomer camptodactyly syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Tel Hashomer camptodactyly syndrome (disorder) Associated morphology Flexion deformity false Inferred relationship Some 6
Tel Hashomer camptodactyly syndrome (disorder) Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 6
Tel Hashomer camptodactyly syndrome (disorder) Finding site Face structure false Inferred relationship Some 5
Tel Hashomer camptodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Tel Hashomer camptodactyly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Tel Hashomer camptodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Tel Hashomer camptodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Tel Hashomer camptodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Tel Hashomer camptodactyly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Tel Hashomer camptodactyly syndrome (disorder) Associated morphology Flexion deformity false Inferred relationship Some 3
Tel Hashomer camptodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Tel Hashomer camptodactyly syndrome (disorder) Finding site Musculoskeletal structure of digit of hand true Inferred relationship Some 3
Tel Hashomer camptodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Tel Hashomer camptodactyly syndrome (disorder) Finding site Finger structure true Inferred relationship Some 2
Tel Hashomer camptodactyly syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Tel Hashomer camptodactyly syndrome (disorder) Is a Congenital anomaly of finger true Inferred relationship Some
Tel Hashomer camptodactyly syndrome (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 3
Tel Hashomer camptodactyly syndrome (disorder) Is a Flexion deformity of hand true Inferred relationship Some
Tel Hashomer camptodactyly syndrome (disorder) Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Some
Tel Hashomer camptodactyly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Tel Hashomer camptodactyly syndrome (disorder) Is a Congenital deformity of hand (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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