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1145459008: Aplasia of fibula (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4545969012 Aplasia of fibula en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4552373019 Aplasia of fibula (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


10 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Aplasia of fibula Is a Aplasia of bone of lower limb true Inferred relationship Some
Aplasia of fibula Is a Congenital absence of fibula true Inferred relationship Some
Aplasia of fibula Occurrence Congenital true Inferred relationship Some 1
Aplasia of fibula Finding site Bone structure of fibula true Inferred relationship Some 1
Aplasia of fibula Associated morphology Aplasia true Inferred relationship Some 1
Aplasia of fibula Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Complete phocomelia of lower limb Is a False Aplasia of fibula Inferred relationship Some
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. Is a True Aplasia of fibula Inferred relationship Some
A rare syndrome characterized by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5). Is a True Aplasia of fibula Inferred relationship Some
Agenesis of fibula Is a True Aplasia of fibula Inferred relationship Some

This concept is not in any reference sets

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