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722432000: Duane anomaly, myopathy, scoliosis syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3332045016 Duane anomaly, myopathy, scoliosis syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3332046015 Duane anomaly, myopathy, scoliosis syndrome en Synonym Active Case sensitive SNOMED CT core
3332047012 Verloes Deprez syndrome en Synonym Active Case sensitive SNOMED CT core
3332048019 Syndrome with the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of siblings. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Duane anomaly, myopathy, scoliosis syndrome Associated morphology Lateral abnormal curvature true Inferred relationship Some 3
Duane anomaly, myopathy, scoliosis syndrome Finding site Skeletal muscle structure true Inferred relationship Some 1
Duane anomaly, myopathy, scoliosis syndrome Occurrence Congenital true Inferred relationship Some 1
Duane anomaly, myopathy, scoliosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Duane anomaly, myopathy, scoliosis syndrome Finding site Eye structure true Inferred relationship Some 2
Duane anomaly, myopathy, scoliosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Duane anomaly, myopathy, scoliosis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Duane anomaly, myopathy, scoliosis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Duane anomaly, myopathy, scoliosis syndrome Finding site Musculoskeletal structure of spine true Inferred relationship Some 3
Duane anomaly, myopathy, scoliosis syndrome Occurrence Congenital true Inferred relationship Some 2
Duane anomaly, myopathy, scoliosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Duane anomaly, myopathy, scoliosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Duane anomaly, myopathy, scoliosis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Duane anomaly, myopathy, scoliosis syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a Congenital anomaly of skeletal muscle true Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a Duane's syndrome, type 3 true Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a Scoliosis deformity of spine true Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Finding site Structure of nervous system false Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Finding site Eyelid structure false Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Has definitional manifestation Retraction false Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Associated morphology Developmental abnormality false Inferred relationship Some 7
Duane anomaly, myopathy, scoliosis syndrome Occurrence Congenital false Inferred relationship Some 7
Duane anomaly, myopathy, scoliosis syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6
Duane anomaly, myopathy, scoliosis syndrome Occurrence Congenital false Inferred relationship Some 6
Duane anomaly, myopathy, scoliosis syndrome Associated morphology Lateral abnormal curvature false Inferred relationship Some 8
Duane anomaly, myopathy, scoliosis syndrome Finding site Musculoskeletal structure of spine false Inferred relationship Some 8
Duane anomaly, myopathy, scoliosis syndrome Finding site Skeletal muscle structure false Inferred relationship Some 6
Duane anomaly, myopathy, scoliosis syndrome Finding site Eye structure false Inferred relationship Some 7
Duane anomaly, myopathy, scoliosis syndrome Interprets Evaluation procedure false Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Finding site Abducens nerve structure true Inferred relationship Some 4
Duane anomaly, myopathy, scoliosis syndrome Occurrence Congenital true Inferred relationship Some 4
Duane anomaly, myopathy, scoliosis syndrome Is a Myoneural disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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