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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
2348481000005119 Akondroplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Achondroplasia Is a primordial dværgvækst 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 (disorder) 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 kongenit dysplasi 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 (disorder) true Inferred relationship Some
Achondroplasia Is a Short stature disorder false Inferred relationship Some
Achondroplasia Associated morphology kongenit dysplasi 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 kongenit dysplasi false Inferred relationship Some 3
Achondroplasia Associated morphology kongenit hypoplasi false Inferred relationship Some 5
Achondroplasia Associated morphology kongenit dysplasi 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 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
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 Some
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). Is a True Achondroplasia Inferred relationship Some

This concept is not in any reference sets

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