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719397009: Mesomelic dysplasia Kantaputra type (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
3314812011 Mesomelic dysplasia Kantaputra type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3314813018 Mesomelic dysplasia Kantaputra type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3314814012 Kantaputra mesomelic dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316210012 Mesomelic dysplasia Thai type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3316209019 A rare skeletal disease with characteristics of symmetric shortening of the middle segments of limbs and short stature. It has been described in five families. In the upper limbs, the ulnae are very short, and the radii are bowed. The distal humerus has a dumbbell shape. The hands show progressive flexion contractures of the proximal interphalangeal joints. In the lower limbs, feet are fixed in plantar flexion so that the patients walk on their toe tips. All affected patients have normal craniofacial features and intelligence. Two micro duplications have been identified on chromosome 2 (2q31.1-q31.2), separated by a segment of normal copy number. In all families, the condition is transmitted as an autosomal dominant trait. 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
Mesomelic dysplasia Kantaputra type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a Mesomelic dysplasia true Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Mesomelic dysplasia Kantaputra type (disorder) Occurrence Congenital false Inferred relationship Some 2
Mesomelic dysplasia Kantaputra type (disorder) Finding site Bone structure false Inferred relationship Some 2
Mesomelic dysplasia Kantaputra type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Mesomelic dysplasia Kantaputra type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Mesomelic dysplasia Kantaputra type (disorder) Occurrence Congenital true Inferred relationship Some 1
Mesomelic dysplasia Kantaputra type (disorder) Finding site Bone structure false Inferred relationship Some 1
Mesomelic dysplasia Kantaputra type (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Mesomelic dysplasia Kantaputra type (disorder) Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Clinical course Progressive (qualifier value) false Inferred relationship Some 2
Mesomelic dysplasia Kantaputra type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Interprets Height / growth measure false Inferred relationship Some 3
Mesomelic dysplasia Kantaputra type (disorder) Interprets Limb length true Inferred relationship Some 2
Mesomelic dysplasia Kantaputra type (disorder) Has interpretation Below reference range true Inferred relationship Some 2
Mesomelic dysplasia Kantaputra type (disorder) Finding site Bone structure of extremity true Inferred relationship Some 1
Mesomelic dysplasia Kantaputra type (disorder) Is a Congenital deformity of bone of forearm (disorder) true Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a Short stature disorder true Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a Congenital anomalies of elbow and upper arm true Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a Deformity of radius true Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a Bowing of upper limb (finding) true Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a Congenital abnormal shape of humerus true Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a Congenital abnormal shape of radius true Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Interprets Body height measure (observable entity) true Inferred relationship Some 5
Mesomelic dysplasia Kantaputra type (disorder) Has interpretation Below reference range true Inferred relationship Some 5
Mesomelic dysplasia Kantaputra type (disorder) Occurrence Congenital true Inferred relationship Some 3
Mesomelic dysplasia Kantaputra type (disorder) Finding site Bone structure of distal humerus true Inferred relationship Some 3
Mesomelic dysplasia Kantaputra type (disorder) Associated morphology Abnormal shape (morphologic abnormality) true Inferred relationship Some 3
Mesomelic dysplasia Kantaputra type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Mesomelic dysplasia Kantaputra type (disorder) Occurrence Congenital true Inferred relationship Some 4
Mesomelic dysplasia Kantaputra type (disorder) Finding site Bone structure of radius (body structure) true Inferred relationship Some 4
Mesomelic dysplasia Kantaputra type (disorder) Associated morphology Bowing deformity true Inferred relationship Some 4
Mesomelic dysplasia Kantaputra type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Mesomelic dysplasia Kantaputra type (disorder) Is a Congenital bowing of long bone (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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