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449682004: Congenital absence of part of upper limb (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2012. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2912610011 Congenital absence of part of upper limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2912975011 Congenital absence of part of upper limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2912610011 Congenital absence of part of upper limb en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2912610011 Congenital absence of part of upper limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2912975011 Congenital absence of part of upper limb (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2912975011 Congenital absence of part of upper limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5904301000241119 absence congénitale d'une partie du membre supérieur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5904301000241119 absence congénitale d'une partie du membre supérieur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

153 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital absence of part of upper limb (disorder) Associated morphology Congenital partial absence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of part of upper limb (disorder) Is a Congenital absence of upper limb (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of part of upper limb (disorder) Is a Partial congenital absence of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of part of upper limb (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of part of upper limb (disorder) Finding site Upper limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of part of upper limb (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of part of upper limb (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of part of upper limb (disorder) Finding site Upper extremity part true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of part of upper limb (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of part of upper limb (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
amélie d'un membre supérieur Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital amputation of upper limb Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
bras rudimentaire Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Partial radial absence Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of part of upper arm Is a True Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Partial aphalangia of upper limb Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
hémimélie d'un membre supérieur Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of hand (disorder) Is a True Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of ulna (disorder) Is a True Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of radius Is a True Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of carpal bone Is a True Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of humerus Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of forearm with hand AND fingers Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of upper arm AND forearm Is a True Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Transverse deficiency of upper limb Is a True Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of finger Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acephalocheiria Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal absence of radius AND ulna Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Transverse deficiency of hand Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Complete aphalangia of upper limb Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia of upper limb Is a True Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of forearm and hand Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of scapula Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of scapula Is a True Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectromelia of upper limb Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of clavicle Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Crane Heise syndrome (disorder) Is a False Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a True Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of bone of upper limb (disorder) Is a True Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of muscle of upper limb Is a True Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of radial artery Is a True Congenital absence of part of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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