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733093004: Banki 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
3498736016 Banki syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498737013 Banki syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403737014 Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965. 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
Banki syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Banki syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Banki syndrome (disorder) Is a Disorder of ligament false Inferred relationship Some
Banki syndrome (disorder) Is a Congenital anomaly of upper limb false Inferred relationship Some
Banki syndrome (disorder) Is a Congenital anomaly of joint true Inferred relationship Some
Banki syndrome (disorder) Is a Lesion of soft tissue (disorder) false Inferred relationship Some
Banki syndrome (disorder) Is a Lesion of joint true Inferred relationship Some
Banki syndrome (disorder) Is a Congenital connective tissue disorder true Inferred relationship Some
Banki syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) true Inferred relationship Some
Banki syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Banki syndrome (disorder) Is a Disorder of wrist joint (disorder) true Inferred relationship Some
Banki syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 1
Banki syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Banki syndrome (disorder) Finding site Lunotriquetral ligament true Inferred relationship Some 1
Banki syndrome (disorder) Is a Disorder of soft tissue of upper limb false Inferred relationship Some
Banki syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Banki syndrome (disorder) Is a Arthropathy of joint of hand (disorder) false Inferred relationship Some
Banki syndrome (disorder) Is a Congenital anomaly of hand (disorder) true Inferred relationship Some
Banki syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Banki syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 1
Banki syndrome (disorder) Is a Disorder of ligament of joint of hand (disorder) true Inferred relationship Some
Banki syndrome (disorder) Is a Soft tissue lesion of wrist and hand 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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