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86268005: Achondroplasia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
143065010 Achondroplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
143066011 Chondrodystrophia fetalis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
143067019 Achondroplastic dwarf en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
143069016 Osteosclerosis congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
143070015 Congenital osteosclerosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
507012010 Achondroplastic dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
828495014 Achondroplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
970141000172113 achondroplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
914181000172115 achondroplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)

1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Achondroplasia Is a Dwarfism false Inferred relationship Some
Achondroplasia Is a Defects of the tubular (and flat) bones and/or axial skeleton false Inferred relationship Some
Achondroplasia Is a Achondrogenesis true Inferred relationship Some
Achondroplasia Associated morphology Dysplasia false Inferred relationship Some 1
Achondroplasia Finding site Both upper extremities false Inferred relationship Some
Achondroplasia Finding site Structure of epiphysis false Inferred relationship Some 1
Achondroplasia Finding site Both lower extremities false Inferred relationship Some
Achondroplasia Occurrence Congenital false Inferred relationship Some
Achondroplasia Associated morphology Congenital dysplasia false Inferred relationship Some 2
Achondroplasia Associated morphology Growth alteration false Inferred relationship Some 1
Achondroplasia Finding site Bone structure false Inferred relationship Some 2
Achondroplasia Is a Disorder of epiphysis true Inferred relationship Some
Achondroplasia Is a Short stature disorder false Inferred relationship Some
Achondroplasia Associated morphology Congenital dysplasia false Inferred relationship Some 2
Achondroplasia Finding site Bone structure false Inferred relationship Some 2
Achondroplasia Finding site Structure of epiphysis false Inferred relationship Some 1
Achondroplasia Associated morphology Growth alteration false Inferred relationship Some 1
Achondroplasia Occurrence Congenital true Inferred relationship Some 3
Achondroplasia Associated morphology Dysplasia true Inferred relationship Some 3
Achondroplasia Finding site Bone structure true Inferred relationship Some 3
Achondroplasia Occurrence Congenital false Inferred relationship Some 4
Achondroplasia Occurrence Congenital false Inferred relationship Some 5
Achondroplasia Finding site Bone structure false Inferred relationship Some 5
Achondroplasia Associated morphology Congenital dysplasia false Inferred relationship Some 3
Achondroplasia Associated morphology Congenital hypoplasia false Inferred relationship Some 5
Achondroplasia Associated morphology Congenital dysplasia false Inferred relationship Some 4
Achondroplasia Finding site Bone structure false Inferred relationship Some 4
Achondroplasia Associated morphology Growth alteration false Inferred relationship Some 3
Achondroplasia Finding site Structure of epiphysis false Inferred relationship Some 3
Achondroplasia Occurrence Congenital true Inferred relationship Some 2
Achondroplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Achondroplasia Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Achondroplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Achondroplasia Occurrence Congenital false Inferred relationship Some 1
Achondroplasia Associated morphology Hypoplasia true Inferred relationship Some 2
Achondroplasia Finding site Skeletal system structure false Inferred relationship Some 2
Achondroplasia Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Achondroplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Achondroplasia Is a Chondrodysplasia (disorder) true Inferred relationship Some
Achondroplasia Finding site Structure of epiphysis true Inferred relationship Some 2
Achondroplasia Is a Developmental hereditary disorder true Inferred relationship Some
Achondroplasia Interprets Height / growth measure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Achondroplasia Inferred relationship Some
Family history of achondroplasia (situation) Associated finding True Achondroplasia Inferred relationship Some 1
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) Is a False Achondroplasia Inferred relationship Some
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) Is a True Achondroplasia Inferred relationship Some

This concept is not in any reference sets

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