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890223001: Congenital complete absence of bilateral upper limbs (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4009963014 Bilateral amelia of upper limbs en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4012141011 Congenital complete absence of bilateral upper limbs (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4012142016 Congenital complete absence of bilateral upper limbs en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5837321000241118 absence congénitale complète bilatérale des membres supérieurs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5837331000241116 absence congénitale totale des deux membres supérieurs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital complete absence of bilateral upper limbs (disorder) Is a Congenital deformity of bilateral upper limbs (disorder) false Inferred relationship Some
Congenital complete absence of bilateral upper limbs (disorder) Is a Congenital complete absence of upper limb (disorder) false Inferred relationship Some
Congenital complete absence of bilateral upper limbs (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 1
Congenital complete absence of bilateral upper limbs (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital complete absence of bilateral upper limbs (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital complete absence of bilateral upper limbs (disorder) Finding site Entire right upper limb (body structure) true Inferred relationship Some 1
Congenital complete absence of bilateral upper limbs (disorder) Finding site Entire left upper limb (body structure) true Inferred relationship Some 2
Congenital complete absence of bilateral upper limbs (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 2
Congenital complete absence of bilateral upper limbs (disorder) Occurrence Congenital true Inferred relationship Some 2
Congenital complete absence of bilateral upper limbs (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital complete absence of bilateral upper limbs (disorder) Is a Bilateral congenital anomaly of upper limbs false Inferred relationship Some
Congenital complete absence of bilateral upper limbs (disorder) Is a Congenital complete absence of left upper limb true Inferred relationship Some
Congenital complete absence of bilateral upper limbs (disorder) Is a Congenital complete absence of right upper limb (disorder) true Inferred relationship Some
Congenital complete absence of bilateral upper limbs (disorder) Is a Congenital absence of bilateral upper limbs (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare disorder characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents. Is a True Congenital complete absence of bilateral upper limbs (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 True Congenital complete absence of bilateral upper limbs (disorder) Inferred relationship Some
A genetic syndrome characterized by the absence of all four limbs. Is a True Congenital complete absence of bilateral upper limbs (disorder) Inferred relationship Some

This concept is not in any reference sets

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