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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
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
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
5475381000241117 dysplasie mésomélique de type hypoplasique ulna et fibula fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449381001000118 Kleinwuchs, mesomeler, Typ Reinhardt-Pfeiffer de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Is a Mesomelic dysplasia true Inferred relationship Some
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Is a Connective tissue hereditary disorder false Inferred relationship Some
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Associated morphology Congenital dysplasia false Inferred relationship Some 2
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Occurrence Congenital false Inferred relationship Some 2
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Finding site Bone structure false Inferred relationship Some 2
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Occurrence Congenital true Inferred relationship Some 1
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Finding site Bone structure false Inferred relationship Some 1
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Associated morphology Congenital dysplasia false Inferred relationship Some 1
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Associated morphology Dysplasia true Inferred relationship Some 1
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Finding site Skeletal system structure false Inferred relationship Some 1
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Clinical course Progressive false Inferred relationship Some 2
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Is a Developmental hereditary disorder true Inferred relationship Some
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Interprets Height / growth measure false Inferred relationship Some 3
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Interprets Limb length true Inferred relationship Some 2
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Has interpretation Below reference range true Inferred relationship Some 2
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Is a Short stature disorder true Inferred relationship Some
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Interprets Body height measure true Inferred relationship Some 4
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Has interpretation Below reference range true Inferred relationship Some 4
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Occurrence Congenital true Inferred relationship Some 3
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Finding site Bone structure of fibula true Inferred relationship Some 3
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Is a Congenital hypoplasia of fibula true Inferred relationship Some
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Is a Congenital hypoplasia of ulna true Inferred relationship Some
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Finding site Bone structure of limb true Inferred relationship Some 1
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Associated morphology Hypoplasia true Inferred relationship Some 3
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Occurrence Congenital true Inferred relationship Some 5
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Finding site Bone structure of ulna true Inferred relationship Some 5
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Associated morphology Hypoplasia true Inferred relationship Some 5
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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