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725097006: Crisponi 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
3438506013 Crisponi syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3438507016 Crisponi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403391014 Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403392019 Crisponi syndrome (CS) is a severe disorder characterised by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. 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
Crisponi syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Crisponi syndrome (disorder) Is a Camptodactyly true Inferred relationship Some
Crisponi syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Crisponi syndrome (disorder) Is a Cold-induced sweating syndrome (disorder) true Inferred relationship Some
Crisponi syndrome (disorder) Finding site Autonomic nervous system structure true Inferred relationship Some 4
Crisponi syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Crisponi syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 6
Crisponi syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Crisponi syndrome (disorder) Finding site Face structure false Inferred relationship Some 6
Crisponi syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Crisponi syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Crisponi syndrome (disorder) Finding site Finger structure false Inferred relationship Some 5
Crisponi syndrome (disorder) Associated morphology Flexion deformity false Inferred relationship Some 7
Crisponi syndrome (disorder) Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 7
Crisponi syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Crisponi syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Crisponi syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Crisponi syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Crisponi syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Crisponi syndrome (disorder) Finding site Face structure true Inferred relationship Some 3
Crisponi syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Crisponi syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Crisponi syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Crisponi syndrome (disorder) Finding site Musculoskeletal structure of digit of hand true Inferred relationship Some 2
Crisponi syndrome (disorder) Finding site Finger structure true Inferred relationship Some 1
Crisponi syndrome (disorder) Associated morphology Flexion deformity true Inferred relationship Some 2
Crisponi syndrome (disorder) Is a Congenital anomaly of finger true Inferred relationship Some
Crisponi syndrome (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) false Inferred relationship Some 2
Crisponi syndrome (disorder) Is a Flexion deformity of hand true Inferred relationship Some
Crisponi syndrome (disorder) Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Some
Crisponi syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Crisponi syndrome (disorder) Finding site Musculoskeletal system structure of digit (body structure) true Inferred relationship Some 5
Crisponi syndrome (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 5
Crisponi syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Crisponi 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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