49755003: morfologische afwijking (afwijkende morfologie)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Morphologically abnormal structure (morphologic abnormality)	Is a	Morphologically altered structure	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	6
Lack of ossification of arch of sacral vertebra	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Oro-facial digital syndrome type 14	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Oro-facial digital syndrome type 14	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Morning glory disc	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Tubule of paroophoron	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Tubule of paroophoron	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital blindness	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of pulmonary veins	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
mandibulofaciale dysostose	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of diaphragm	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Overgrowth of whole upper limb	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Overgrowth of whole upper limb	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital saddle nose (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of radius	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Reunion-Indiana Amish type muscular dystrophy	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Dwarf pelvis	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of palate	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Urachal diverticulum (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Schizencephaly	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Schizencephaly	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital corneal opacity not interfering with vision	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Malformation sequence	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
congenitale afwijking van uterus - bevallen	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Platyspondylia	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Delta phalanx of finger	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
neurologische vorm van congenitale-jodiumdeficiëntiesyndroom (aandoening)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
congenitale triggerduim van beide handen	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
congenitale triggerduim van beide handen	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital malformation of larynx and trachea (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital malformation of larynx and trachea (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of tricuspid valve	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Persistent Gartner's duct	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Hypotrichosis with juvenile macular degeneration syndrome (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Congenital retraction of nipple	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Bilateral congenital deformity fingers	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Bilateral congenital deformity fingers	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Cryptophthalmos (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Oculoskeletal dysplasia (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Oculoskeletal dysplasia (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Megacystis, microcolon, hypoperistalsis syndrome	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Megacystis, microcolon, hypoperistalsis syndrome	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Lack of ossification of frontal bone	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital macular changes	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Generalised essential telangiectasia	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital anomaly of nasal turbinate	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Cutis laxa, autosomal dominant (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Paravaginal cyst arising in mesonephric duct	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Functionally univentricular heart (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Functionally univentricular heart (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Functionally congenital single lung (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Right hypoplastic heart syndrome	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Right hypoplastic heart syndrome	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Abnormal course of aortic arch and descending aorta (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Abnormal course of aortic arch and descending aorta (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Right bronchial isomerism (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Isolation of right subclavian artery (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital anomaly of lower trunk	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
benigne scapuloperoneale spierdystrofie met cardiomyopathie	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital lower lip pits (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of superior vena cava	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Rachischisis	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Rachischisis	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Myhre syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Neuroenteric cyst	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Cylindrical spirals myopathy (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Macrocolon	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Annular pancreas	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Cooks syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Fetal Alcohol Spectrum Disorder	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Athabaskan brainstem dysgenesis syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Catel Manzke syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Amelogenesis imperfecta, hypomaturation type (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Kundrat's syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Lack of ossification of arch of thoracic vertebra	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Testicular dysgenesis	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Overgrowth of partial upper limb	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Overgrowth of partial upper limb	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Amelogenesis imperfecta, hypoplastic type	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of ulna	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Colpocephaly	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Oculocerebrofacial syndrome Kaufman type (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
German syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Ectopic gray matter	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital honeycomb lung	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Laurence-Moon syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Localised congenital skull defect	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Right sided atrium connecting to ventricle of indeterminate morphology	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital abnormal fusion of arch of lumbar vertebra	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Imperforate large intestine	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Multiple congenital cardiac defects	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Double uterus affecting pregnancy	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of mouth	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1

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Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
82877014	Abnormal tissue appearance	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
495494014	Morphologically abnormal structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
787468010	Morphologically abnormal structure (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
756781000146118	afwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
916551000146118	morfologische afwijking (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
916561000146115	morfologische afwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)