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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
143065010 Achondroplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
143066011 Chondrodystrophia fetalis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
143067019 Achondroplastic dwarf en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
143069016 Osteosclerosis congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
143070015 Congenital osteosclerosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
507012010 Achondroplastic dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
828495014 Achondroplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
143065010 Achondroplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
143065010 Achondroplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
143066011 Chondrodystrophia fetalis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
143066011 Chondrodystrophia fetalis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
143067019 Achondroplastic dwarf en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
143067019 Achondroplastic dwarf en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
143069016 Osteosclerosis congenita en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
143069016 Osteosclerosis congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
143070015 Congenital osteosclerosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
143070015 Congenital osteosclerosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
507012010 Achondroplastic dwarfism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
507012010 Achondroplastic dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
828495014 Achondroplasia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
828495014 Achondroplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448441001000113 Achondroplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
970141000172113 achondroplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
970141000172113 achondroplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3448441001000113 Achondroplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Achondroplasia Is a Dwarfism false Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Is a Defects of the tubular (and flat) bones and/or axial skeleton false Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Is a Achondrogenesis true Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondroplasia Finding site Both upper extremities false Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Finding site Structure of epiphysis false Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondroplasia Finding site Both lower extremities false Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondroplasia Associated morphology Growth alteration false Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondroplasia Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondroplasia Is a Disorder of epiphysis true Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Is a Short stature disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondroplasia Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondroplasia Finding site Structure of epiphysis false Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondroplasia Associated morphology Growth alteration false Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondroplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondroplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondroplasia Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondroplasia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Achondroplasia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Achondroplasia Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Achondroplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondroplasia Associated morphology Congenital hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Achondroplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Achondroplasia Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Achondroplasia Associated morphology Growth alteration false Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondroplasia Finding site Structure of epiphysis false Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondroplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondroplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondroplasia Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondroplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondroplasia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondroplasia Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondroplasia Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondroplasia Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Is a Chondrodysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Finding site Structure of epiphysis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondroplasia Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Achondroplasia Inferred relationship Existential restriction modifier (core metadata concept)
Family history of achondroplasia (situation) Associated finding True Achondroplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Is a False Achondroplasia Inferred relationship Existential restriction modifier (core metadata concept)
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) Is a True Achondroplasia Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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