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715472000: Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302744011 Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302745012 Mesomelic dysplasia of hypoplastic ulna and fibula type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302746013 Mesomelic dwarfism Reinhardt-Pfeiffer type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302747016 Reinhardt Pfeiffer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302748014 Reinhardt Pfeiffer mesomelic dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400917018 A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400918011 A rare disorder characterised by disproportionate short stature from birth with dysplasia of the ulna and fibula. 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 of hypoplastic ulna and fibula type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Is a Mesomelic dysplasia true Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Occurrence Congenital false Inferred relationship Some 2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Finding site Bone structure false Inferred relationship Some 2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Occurrence Congenital true Inferred relationship Some 1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Finding site Bone structure false Inferred relationship Some 1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Finding site Skeletal system structure false Inferred relationship Some 1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Clinical course Progressive (qualifier value) false Inferred relationship Some 2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Interprets Height / growth measure false Inferred relationship Some 3
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Interprets Limb length true Inferred relationship Some 2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Has interpretation Below reference range true Inferred relationship Some 2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Is a Short stature disorder true Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Interprets Body height measure (observable entity) true Inferred relationship Some 4
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Has interpretation Below reference range true Inferred relationship Some 4
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Occurrence Congenital true Inferred relationship Some 3
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Finding site Bone structure of fibula true Inferred relationship Some 3
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Is a Congenital hypoplasia of fibula true Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Is a Congenital hypoplasia of ulna true Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Finding site Bone structure of extremity true Inferred relationship Some 1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Associated morphology Hypoplasia true Inferred relationship Some 3
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Occurrence Congenital true Inferred relationship Some 5
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Finding site Bone structure of ulna true Inferred relationship Some 5
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Associated morphology Hypoplasia true Inferred relationship Some 5
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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