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
Uterus cordiformis	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital subluxation of carpus	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Polyvalvular heart disease syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital pericardial defect (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Dysgenesis of the cerebellum	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Ear osseous meatus atresia	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Macromelia	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Branchial cleft, cyst or fistula; preauricular sinus	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Branchial cleft, cyst or fistula; preauricular sinus	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Holoprosencephaly and postaxial polydactyly syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital anomaly of sternocleidomastoid muscle	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of left ear (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Hypomandibular faciocranial dysostosis (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital claw foot (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Aortic orifice posterior with respect to pulmonary orifice (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Intermediate X-linked muscular dystrophy	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital coronary artery calcification	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Spina bifida and hypospadias syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Dumbbell-shaped cartilaginous centrum of thoracic vertebra	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Dumbbell-shaped cartilaginous centrum of thoracic vertebra	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Developmental anomaly of vitelline duct (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Persistent thyroglossal duct	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Nager syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Nager syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital laryngeal stridor	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of urethra	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Female pseudohermaphroditism	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Female pseudohermaphroditism	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Female pseudohermaphroditism	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Encephalocele of orbit	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Congenital abnormality of ductus arteriosus (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Generalized macrodontia	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of skin	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Indeterminate sex and pseudohermaphroditism	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Retroaortic brachiocephalic vein (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Retroaortic brachiocephalic vein (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
congenitaal blefarofimosesyndroom	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Tilted optic disc	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Muscle-eye-brain disease, congenital muscular dystrophy	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Muscle-eye-brain disease, congenital muscular dystrophy	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Persistent aortic arch convolutions	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Odontoma dysphagia syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Microphthalmia with brain and digit anomaly (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Lack of ossification of rib	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Malformation of urachus	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Camptodactyly syndrome Guadalajara type 1 (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Interrupted aortic arch between left common carotid and brachiocephalic artery	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
niet-doorgankelijke rechter ventriculoarteriële klep (aandoening)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Rachischisis with hydrocephalus	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
BSG syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
BSG syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
BSG syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Joubert syndrome with orofaciodigital defect (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Joubert syndrome with orofaciodigital defect (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Joubert syndrome with orofaciodigital defect (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	5
Capillary-venous-lymphatic malformation	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Capillary-venous-lymphatic malformation	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Capillary-venous-lymphatic malformation	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Atrioventricular septal defect associated with tetralogy of Fallot (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Aplasia of muscle	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital hypothyroidism with diffuse goitre	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of premaxilla	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Accessory tissue on tricuspid leaflet	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of lung	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Mis-shapen spleen	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Rotational orbital dystopia	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Anomalous portal vein termination	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Kallman syndrome with heart disease (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Spina bifida	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Rieger syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Cerebro-facio-thoracic dysplasia (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital primary pulmonary lymphangiectasis (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Congenital abnormality of left atrium (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Zellweger syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Holmes-Gang-syndroom	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Disorder of neuronal migration and differentiation	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Multiple neurofibromas in neurofibromatosis (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Multiple neurofibromas in neurofibromatosis (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Amelogenesis imperfecta, pigmented hypomaturation type	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Johnson neuroectodermal syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
First arch syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital iodine deficiency syndrome of mixed type (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of bile ducts	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Enamel-renal syndrome	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of pleural folds	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Peutz-Jeghers syndrome	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Endemic cretinism	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
afwijking van cervix uteri, vagina en uitwendig vrouwelijk geslachtsorgaan	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
afwijking van cervix uteri, vagina en uitwendig vrouwelijk geslachtsorgaan	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
afwijking van cervix uteri, vagina en uitwendig vrouwelijk geslachtsorgaan	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Myeloschisis	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Myeloschisis	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Solitary ventricle of indeterminate morphology (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Cerebellar cortical dysplasia	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Dysgenesis of the brainstem	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Frontofacionasal dysplasia syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Multiple anterior segment anomalies	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)