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15669321000119104: Congenital absence of right lower limb (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3791967010 Congenital absence of right lower limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3791968017 Congenital absence of right lower limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4944960019 Congenital absence of right lower extremity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5898821000241117 absence congénitale du membre inférieur droit fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


15 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital absence of right lower limb (disorder) Finding site Entire right lower limb false Inferred relationship Some 1
Congenital absence of right lower limb (disorder) Associated morphology Agenesis (morphologic abnormality) false Inferred relationship Some 1
Congenital absence of right lower limb (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital absence of right lower limb (disorder) Is a Congenital complete absence of lower limb false Inferred relationship Some
Congenital absence of right lower limb (disorder) Is a Congenital deformity of right lower limb false Inferred relationship Some
Congenital absence of right lower limb (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital absence of right lower limb (disorder) Is a Absence of lower limb (finding) true Inferred relationship Some
Congenital absence of right lower limb (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Congenital absence of right lower limb (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 1
Congenital absence of right lower limb (disorder) Is a Congenital anomaly of right lower limb (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A genetic syndrome characterized by the absence of all four limbs. Is a False Congenital absence of right lower limb (disorder) Inferred relationship Some
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. Is a False Congenital absence of right lower limb (disorder) Inferred relationship Some
Congenital complete absence of bilateral lower limbs Is a False Congenital absence of right lower limb (disorder) Inferred relationship Some
Congenital complete absence of right lower limb (disorder) Is a True Congenital absence of right lower limb (disorder) Inferred relationship Some
Congenital absence of right foot Is a True Congenital absence of right lower limb (disorder) Inferred relationship Some
Congenital absence of bilateral tibias Is a True Congenital absence of right lower limb (disorder) Inferred relationship Some

This concept is not in any reference sets

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