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
Amelogenesis imperfecta and gingival hyperplasia syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital abnormality of uterus affecting obstetric care	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Horizontal orbital dystopia	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Major systemic to pulmonary collateral artery with absent pulmonary arteries proximal to hilar bifurcation (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Major systemic to pulmonary collateral artery with absent pulmonary arteries proximal to hilar bifurcation (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Early onset myopathy with fatal cardiomyopathy (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Pericarditis secondary to Mulibrey nanism	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Developmental anomaly of odontoid process of axis (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Autosomal dominant osteopetrosis type 2 (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Leprechaunism syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Familial omphalocele syndrome with facial dysmorphism (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Ectodermal dysplasia with tooth-sweating defect	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
X-linked myopathy with excessive autophagy (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Orbital separation diminished	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Uterus acollis	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Platypellic pelvis	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
congenitale afwijking van atrium en atriumseptum van hart (aandoening)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital malformation of upper alimentary tract	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of renal pelvis	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Axillary freckling due to neurofibromatosis (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Axillary freckling due to neurofibromatosis (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Mondini defect (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Tel Hashomer camptodactyly syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Tel Hashomer camptodactyly syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Aortic orifice left side by side with respect to pulmonary orifice (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Amelogenesis imperfecta, hypoplastic type with microdontia	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Pleuropericardial cyst	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	5
Oesophageal atresia, stenosis and fistula	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of maxilla	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Ectopic cilia of eyelid	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital anomaly of aortic arch	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital malformation syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Macrophthalmos	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Bethlem myopathy (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Embryopathy caused by phenobarbital (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital malformation of vitreous humour	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Major systemic to pulmonary collateral artery supplying part of right lung	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Major systemic to pulmonary collateral artery supplying part of right lung	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Ruvalcaba syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Ruvalcaba syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Blue sclera (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Caudal appendage deafness syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Gorlin-Chaudhry-Moss syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Bilobed right lung	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Nevus anemicus	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Levy-Hollister syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Isolation of subclavian artery	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Undescended testes - bilateral	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Pre-eruptive color change of tooth	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Fronto-frontal dysostosis	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Spinocerebellar ataxia type 34 (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
autosomaal recessieve spierdystrofie met gen op 15q	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Lateral accessory root canals	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Lack of ossification of radius	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Hologastroschisis	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital anomaly of aortic arch AND/OR descending aorta (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital iodine deficiency syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Auricular abnormality, cleft lip, ocular abnormality syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital abnormality of ventricles and ventricular septum	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Atrioventricular septal defect - ventricular component under inferior bridging leaflet	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Multiple benign annular creases of extremities	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Absent thumb with short stature and immunodeficiency syndrome (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of pericardium	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Supramitral left atrial ring	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital abnormality of lacrimal drainage system (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Vertical orbital dystopia	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital nuclear ophthalmoplegia	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital malformation of nasal septum (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Systemic to pulmonary collateral artery from left brachiocephalic artery (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Systemic to pulmonary collateral artery from left brachiocephalic artery (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Overgrowth of upper limb	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Overgrowth of upper limb	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
congenitale malformatie van bloedvat van orbita	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Treacher Collins syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital abnormality of hepatic vein (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of lower limb (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Corneal size and shape anomalies	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Vascular compression of esophagus by aberrant artery	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Multiple café-au-lait macules due to neurofibromatosis (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Multiple café-au-lait macules due to neurofibromatosis (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Reduction anomaly of hypothalamus	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Reduction anomaly of hypothalamus	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Tracheal origin of right upper lobe bronchus (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Tracheal origin of right upper lobe bronchus (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Alstrom syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Temtamy syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Genetic defect of hair shaft (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Uterus cordiformis	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)