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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
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


156 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital absence of part of upper limb Associated morphology Congenital partial absence false Inferred relationship Some 2
Congenital absence of part of upper limb Is a Congenital absence of upper limb true Inferred relationship Some
Congenital absence of part of upper limb Is a Partial congenital absence of limb true Inferred relationship Some
Congenital absence of part of upper limb Occurrence Congenital false Inferred relationship Some
Congenital absence of part of upper limb Finding site Upper extremity, including shoulder, arm, forearm, wrist, and hand false Inferred relationship Some 2
Congenital absence of part of upper limb Occurrence Congenital true Inferred relationship Some 1
Congenital absence of part of upper limb Associated morphology Congenital absence false Inferred relationship Some 1
Congenital absence of part of upper limb Finding site Upper limb part true Inferred relationship Some 1
Congenital absence of part of upper limb Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital absence of part of upper limb Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
amélie d'un membre supérieur Is a False Congenital absence of part of upper limb Inferred relationship Some
Congenital amputation of upper limb Is a False Congenital absence of part of upper limb Inferred relationship Some
bras rudimentaire Is a False Congenital absence of part of upper limb Inferred relationship Some
Partial radial absence (disorder) Is a False Congenital absence of part of upper limb Inferred relationship Some
Congenital absence of part of upper arm Is a True Congenital absence of part of upper limb Inferred relationship Some
Partial aphalangia of upper limb Is a False Congenital absence of part of upper limb Inferred relationship Some
hémimélie d'un membre supérieur Is a False Congenital absence of part of upper limb Inferred relationship Some
Congenital absence of hand (disorder) Is a True Congenital absence of part of upper limb Inferred relationship Some
Congenital absence of ulna Is a True Congenital absence of part of upper limb Inferred relationship Some
Congenital absence of radius Is a True Congenital absence of part of upper limb Inferred relationship Some
Congenital absence of carpal bone Is a True Congenital absence of part of upper limb Inferred relationship Some
Congenital absence of humerus Is a False Congenital absence of part of upper limb Inferred relationship Some
Congenital absence of forearm with hand AND fingers Is a False Congenital absence of part of upper limb Inferred relationship Some
Congenital absence of upper arm AND forearm Is a True Congenital absence of part of upper limb Inferred relationship Some
Transverse deficiency of upper limb Is a True Congenital absence of part of upper limb Inferred relationship Some
An exceedingly rare, autosomal recessive immune disease characterized 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 Inferred relationship Some
Congenital absence of finger Is a False Congenital absence of part of upper limb Inferred relationship Some
Acephalocheiria Is a False Congenital absence of part of upper limb Inferred relationship Some
Longitudinal absence of radius AND ulna Is a False Congenital absence of part of upper limb Inferred relationship Some
Transverse deficiency of hand Is a False Congenital absence of part of upper limb Inferred relationship Some
Complete aphalangia of upper limb Is a False Congenital absence of part of upper limb Inferred relationship Some
Phocomelia of upper limb Is a True Congenital absence of part of upper limb Inferred relationship Some
Congenital absence of forearm and hand Is a False Congenital absence of part of upper limb Inferred relationship Some
Agenesis of scapula (disorder) Is a False Congenital absence of part of upper limb Inferred relationship Some
Congenital absence of scapula Is a True Congenital absence of part of upper limb Inferred relationship Some
Ectromelia of upper limb Is a False Congenital absence of part of upper limb Inferred relationship Some
Agenesis of clavicle Is a False Congenital absence of part of upper limb Inferred relationship Some
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Is a False Congenital absence of part of upper limb Inferred relationship Some
Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986. Is a True Congenital absence of part of upper limb Inferred relationship Some
Aplasia of bone of upper limb Is a True Congenital absence of part of upper limb Inferred relationship Some
Aplasia of muscle of upper limb Is a True Congenital absence of part of upper limb Inferred relationship Some
Aplasia of radial artery Is a True Congenital absence of part of upper limb Inferred relationship Some

This concept is not in any reference sets

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