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721009008: Heart defect and limb shortening 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 Reference Sets
3323022014 Heart defect and limb shortening syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3323023016 Heart defect and limb shortening syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3323024010 Cardioskeletal syndrome Kuwaiti type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3323025011 Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male siblings from Kuwaiti first cousins. The clinical and radiological features of these patients were reported as a distinct cardio-skeletal syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Heart defect and limb shortening syndrome (disorder) Is a Congenital heart disease true Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Is a Longitudinal deficiency of limb true Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Is a Skeletal dysplasia true Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 3
Heart defect and limb shortening syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Heart defect and limb shortening syndrome (disorder) Finding site Heart structure false Inferred relationship Some 3
Heart defect and limb shortening syndrome (disorder) Associated morphology Abnormal shortening false Inferred relationship Some 4
Heart defect and limb shortening syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Heart defect and limb shortening syndrome (disorder) Finding site Entire limb false Inferred relationship Some 4
Heart defect and limb shortening syndrome (disorder) Associated morphology kongenit dysplasi false Inferred relationship Some 5
Heart defect and limb shortening syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Heart defect and limb shortening syndrome (disorder) Finding site Bone structure false Inferred relationship Some 5
Heart defect and limb shortening syndrome (disorder) Associated morphology kongenit dysplasi false Inferred relationship Some 3
Heart defect and limb shortening syndrome (disorder) Finding site Bone structure true Inferred relationship Some 3
Heart defect and limb shortening syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Heart defect and limb shortening syndrome (disorder) Is a Congenital anomaly of limb false Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Heart defect and limb shortening syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Heart defect and limb shortening syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Heart defect and limb shortening syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Heart defect and limb shortening syndrome (disorder) Finding site Heart structure true Inferred relationship Some 2
Heart defect and limb shortening syndrome (disorder) Associated morphology Abnormal shortening true Inferred relationship Some 1
Heart defect and limb shortening syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Heart defect and limb shortening syndrome (disorder) Finding site Entire limb true Inferred relationship Some 1
Heart defect and limb shortening syndrome (disorder) Is a Congenital deformity false Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Heart defect and limb shortening syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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