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62588002: Congenital complete absence of limb (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
104024019 Amelia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
104027014 Congenital absence of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5155008013 Congenital complete absence of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5155009017 Congenital complete absence of limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1875211000005115 Ameli da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

12 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital complete absence of limb Is a Phocomelia false Inferred relationship Some
Congenital complete absence of limb Finding site Musculoskeletal structure of limb false Inferred relationship Some
Congenital complete absence of limb Finding site Limb structure false Inferred relationship Some 1
Congenital complete absence of limb Associated morphology dysgenese false Inferred relationship Some
Congenital complete absence of limb Associated morphology Congenital absence false Inferred relationship Some 1
Congenital complete absence of limb Occurrence Congenital false Inferred relationship Some
Congenital complete absence of limb Is a Congenital anomaly of limb false Inferred relationship Some
Congenital complete absence of limb Is a Congenital malformation false Inferred relationship Some
Congenital complete absence of limb Associated morphology Congenital absence false Inferred relationship Some 1
Congenital complete absence of limb Finding site Limb structure false Inferred relationship Some 1
Congenital complete absence of limb Occurrence Congenital false Inferred relationship Some 2
Congenital complete absence of limb Finding site Limb structure false Inferred relationship Some 2
Congenital complete absence of limb Is a Congenital absence false Inferred relationship Some
Congenital complete absence of limb Associated morphology Congenital absence false Inferred relationship Some 2
Congenital complete absence of limb Occurrence Congenital true Inferred relationship Some 1
Congenital complete absence of limb Associated morphology Congenital absence false Inferred relationship Some 1
Congenital complete absence of limb Finding site Entire limb true Inferred relationship Some 1
Congenital complete absence of limb Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital complete absence of limb Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 1
Congenital complete absence of limb Is a Aplasia of limb true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Agenesi af begge forpoter og begge bagpoter Is a False Congenital complete absence of limb Inferred relationship Some
Congenital complete absence of lower limb Is a True Congenital complete absence of limb Inferred relationship Some
Congenital absence of femur Is a False Congenital complete absence of limb Inferred relationship Some
Kongenit manglende del af arm Is a False Congenital complete absence of limb Inferred relationship Some
Congenital absence of upper limb Is a False Congenital complete absence of limb Inferred relationship Some
Phocomelia Is a False Congenital complete absence of limb Inferred relationship Some
Anonychia Is a False Congenital complete absence of limb Inferred relationship Some
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance. Is a False Congenital complete absence of limb Inferred relationship Some
Partial congenital absence of limb Is a False Congenital complete absence of limb Inferred relationship Some
Ectrodactyly Is a False Congenital complete absence of limb Inferred relationship Some
Congenital absence of paw Is a False Congenital complete absence of limb Inferred relationship Some
Adactyly Is a False Congenital complete absence of limb Inferred relationship Some
Reduction deformity of upper limb Is a False Congenital complete absence of limb Inferred relationship Some
Kongenit manglende underarm med hånd OG fingre Is a False Congenital complete absence of limb Inferred relationship Some
A genetic syndrome characterized by the absence of all four limbs. Is a False Congenital complete absence of limb Inferred relationship Some
Congenital complete absence of upper limb Is a True Congenital complete absence of limb Inferred relationship Some

This concept is not in any reference sets

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