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722432000: syndroom van Duane-anomalie, myopathie en scoliose (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3332046015 Duane anomaly, myopathy, scoliosis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332047012 Verloes Deprez syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6113811000146111 syndroom van Verloes-Deprez nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6798381000146112 syndroom van Duane-anomalie, myopathie en scoliose (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6798391000146114 syndroom van Duane-anomalie, myopathie en scoliose nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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