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205306000: Congenital complete absence of upper limb (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
314832019 Congenital complete absence of upper limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
590651019 Congenital complete absence of upper limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3038737011 Transverse deficiency of arm, shoulder level en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3038742015 Amelia of upper limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
314832019 Congenital complete absence of upper limb en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
314832019 Congenital complete absence of upper limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
590651019 Congenital complete absence of upper limb (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
590651019 Congenital complete absence of upper limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3038737011 Transverse deficiency of arm, shoulder level en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3038737011 Transverse deficiency of arm, shoulder level en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3038742015 Amelia of upper limb en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3038742015 Amelia of upper limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3396541001000112 Amelie der oberen Extremitäten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4884381000241110 agénésie du membre supérieur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4884381000241110 agénésie du membre supérieur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3396541001000112 Amelie der oberen Extremitäten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital complete absence of upper limb (disorder) Is a Congenital absence of upper limb (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of upper limb (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of upper limb (disorder) Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital complete absence of upper limb (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital complete absence of upper limb (disorder) Associated morphology Congenital partial absence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Finding site Musculoskeletal structure of upper limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Finding site Upper limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of upper limb (disorder) Is a Congenital anomaly of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of upper limb (disorder) Is a Congenital absence part of arm (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of upper limb (disorder) Is a Partial congenital absence of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of upper limb (disorder) Is a Reduction deformity of upper limb false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of upper limb (disorder) Is a Deformity (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of upper limb (disorder) Finding site Musculoskeletal structure of upper limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Finding site Musculoskeletal structure of upper limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital complete absence of upper limb (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital complete absence of upper limb (disorder) Finding site Entire upper limb false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital complete absence of upper limb (disorder) Is a Congenital complete absence of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of upper limb (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Finding site Entire upper limb true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Is a Congenital anomaly of upper limb false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of upper limb (disorder) Is a Absence of upper limb (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Tetra-amelia syndrome Is a False Congenital complete absence of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 complete absence of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital amputation of upper limb Is a False Congenital complete absence of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Omocephalus Is a True Congenital complete absence of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 False Congenital complete absence of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of bilateral upper limbs Is a False Congenital complete absence of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of left upper limb Is a True Congenital complete absence of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of right upper limb Is a True Congenital complete absence of upper limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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