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205532005: Aplasia of muscle (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
315186015 Aplasia of muscle en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
315187012 Orbinsky syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
315188019 Absent muscle en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
590914010 Aplasia of muscle (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1411181000005118 Aplasi af muskel da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

15 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Aplasia of muscle Is a Congenital absence of muscle AND/OR tendon false Inferred relationship Some
Aplasia of muscle Associated morphology Congenital absence false Inferred relationship Some 1
Aplasia of muscle Finding site Skeletal muscle system structure true Inferred relationship Some 1
Aplasia of muscle Finding site Tendon structure (body structure) false Inferred relationship Some 1
Aplasia of muscle Occurrence Congenital false Inferred relationship Some
Aplasia of muscle Is a Congenital absence of tendon false Inferred relationship Some
Aplasia of muscle Finding site Structure of musculoskeletal system (body structure) false Inferred relationship Some 1
Aplasia of muscle Associated morphology Congenital absence false Inferred relationship Some 1
Aplasia of muscle Associated morphology Congenital absence false Inferred relationship Some 1
Aplasia of muscle Finding site Structure of musculoskeletal system (body structure) false Inferred relationship Some 1
Aplasia of muscle Occurrence Congenital false Inferred relationship Some 2
Aplasia of muscle Finding site Structure of musculoskeletal system (body structure) false Inferred relationship Some 2
Aplasia of muscle Is a Congenital anomaly of muscle AND/OR tendon false Inferred relationship Some
Aplasia of muscle Associated morphology Aplasia false Inferred relationship Some 2
Aplasia of muscle Occurrence Congenital false Inferred relationship Some 3
Aplasia of muscle Associated morphology dysgenese false Inferred relationship Some 3
Aplasia of muscle Finding site Skeletal muscle and/or tendon structure false Inferred relationship Some 3
Aplasia of muscle Finding site Skeletal muscle and/or tendon structure false Inferred relationship Some 2
Aplasia of muscle Associated morphology Morphologically abnormal structure false Inferred relationship Some 2
Aplasia of muscle Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Aplasia of muscle Occurrence Congenital true Inferred relationship Some 1
Aplasia of muscle Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Aplasia of muscle Associated morphology Aplasia true Inferred relationship Some 1
Aplasia of muscle Is a Congenital anomaly of musculoskeletal system true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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 Aplasia of muscle Inferred relationship Some
Congenital absence of muscle AND/OR tendon Is a False Aplasia of muscle Inferred relationship Some
Aplasia of diaphragm (disorder) Is a True Aplasia of muscle Inferred relationship Some
A rare hereditary motor and sensory neuropathy with characteristics of 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 Aplasia of muscle Inferred relationship Some
Aplasia of muscle of pelvis Is a True Aplasia of muscle Inferred relationship Some
Aplasia of muscle of limb Is a True Aplasia of muscle Inferred relationship Some
Aplasia of muscle of abdominal wall (disorder) Is a True Aplasia of muscle Inferred relationship Some
Aplasia of pectoral muscle Is a True Aplasia of muscle Inferred relationship Some

This concept is not in any reference sets

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