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
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Congenital anomaly of mitral valve	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Celosomus	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Irido-trabecular dysgenesis	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of nasal bone	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Septo-optic dysplasia sequence	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of cerebrum (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Double outlet right ventricle with subpulmonary ventricular septal defect (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Double outlet right ventricle with subaortic ventricular septal defect	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital billowing of mitral valve leaflet (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Hidrotic ectodermal dysplasia Halal type (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Hidrotic ectodermal dysplasia Halal type (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Hidrotic ectodermal dysplasia Halal type (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Congenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Braddock syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Criss-cross heart with leftward rotation (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital ureteric valves	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of right finger	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of hair	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Intracardiac location of anomalous pulmonary venous connection to midline with isomeric atria (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Arterial anomaly of umbilical cord	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital cystic eyeball	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Gonadal dysgenesis	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Mobile cecum	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital tarsal kink (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Venous valvular anomaly	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Port-wine stain with associated anomalies (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Stenosis of systemic to pulmonary artery collateral artery	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Stenosis of systemic to pulmonary artery collateral artery	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Congenital anomaly of ischium	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Rutland ciliary disorientation syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of brain	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Common atrioventricular valve in functionally univentricular heart (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Common atrioventricular valve in functionally univentricular heart (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Interruption of aortic arch distal to subclavian artery (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Pseudo-polycoria (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of musculoskeletal system	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
multipele congenitale anomalieën van foetus (aandoening)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Benign congenital hypotonia	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of right lower limb	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of metacarpal bone (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Oro-facial digital syndrome type 10 (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Oro-facial digital syndrome type 10 (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Oro-facial digital syndrome type 10 (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Multiple malformation syndrome with limb defect as major feature	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Allemann's syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Facioscapulohumeral muscular dystrophy (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
congenitale triggerduim van linker hand (aandoening)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Defect of telencephalic division	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Defect of telencephalic division	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Duane's syndrome, type 2	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Duane's syndrome, type 2	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Specific mixed vascular syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Glycogenosis with glucoaminophosphaturia	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Bilateral closed ductus arteriosus (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Kleefstra syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Craniofacial dyssynostosis syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Rudimentary uterus in male	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Congenital mandibular asymmetry	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Ambiguous genitalia	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital anomaly of pulmonary artery	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Lack of ossification of centrum of lumbar vertebra	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Genitopatellar syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Short preputial frenulum	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Short preputial frenulum	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Hereditary vascular fragility	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital cystic lung	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Hecht syndrome	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Intellectual disability, short stature, hypertelorism syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Intellectual disability, short stature, hypertelorism syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Autosomal recessive faciodigitogenital syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Autosomal recessive faciodigitogenital syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Autosomal recessive faciodigitogenital syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Craniotelencephalic dysplasia (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital malformation of the eyebrow	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital cleft of cardiac valve	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Common atrioventricular orifice in double inlet ventricle (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
King Denborough syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
King Denborough syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Craniometaphyseal dysplasia	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Wooly hair with palmoplantar keratoderma syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital anisocoria	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Bayonet hair	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Double outlet right ventricle with noncommitted ventricular septal defect	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Verloove Vanhorick Brubakk syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Verloove Vanhorick Brubakk syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Verloove Vanhorick Brubakk syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Ethmocephalus	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)