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
Lack of ossification of basisphenoid bone	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Acommissural unicuspid aortic valve (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Lack of ossification of lacrimal bone	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Congenital abnormality of cardiac ventricle	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Commissural fusion of aortic valve	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Accessory tissue on pulmonary valve cusp	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Lack of ossification of premaxilla	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Quadricuspid aortic valve	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Unicommissural unicuspid aortic valve (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Lack of ossification of presphenoid bone	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Rhinocephaly	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
13q12.3 microdeletion syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
14q24.1q24.3 microdeletion syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Hutchinson's triad	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Tapered teeth (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Developmental anomaly of root of tooth (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Robinow syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
afwijkende ontwikkeling van grootte en vorm van gebitselement	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Intramedullary glomus arteriovenous malformation of spinal cord (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Intramedullary and extramedullary arteriovenous malformation of spinal cord (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Otomandibular dysostosis	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Developmental abnormality of cusp of tooth (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Developmental anomaly of crown and root formation	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Temporo-auro-mandibular dysostosis	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Developmental anomaly of tooth	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Chudley McCullough syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital malformation of bilateral external ears (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital malformation of bilateral external ears (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Craniofacial dysplasia osteopenia syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Craniofacial dysplasia osteopenia syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Genitopalatocardiac syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Genitopalatocardiac syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Flat face, microstomia, ear anomaly syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Flat face, microstomia, ear anomaly syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Pitt-Hopkins-achtig syndroom (aandoening)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Emery Nelson syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Emery Nelson syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Ataxia, photosensitivity, short stature syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital malformation of bilateral ears (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Congenital malformation of bilateral ears (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Single left ventricle	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Single right ventricle	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
NPHP3-related Meckel-like syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Myelocele with hydrocephalus	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	4
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
FLOTCH syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
SCALP syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Dandy-Walker syndrome with spina bifida	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital overriding toes of bilateral feet (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	5
Congenital overriding toes of right foot (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Congenital overriding toes of left foot (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Temtamy preaxial brachydactyly syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Didymosis aplasticosebacea (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Temple syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Lethal polymalformative syndrome Boissel type	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2B	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Autosomal dominant aplasia and myelodysplasia (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of bilateral upper limbs (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of bilateral upper limbs (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Long umbilical cord	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Marginal insertion of umbilical cord	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Maxillary asymmetry due to hemifacial hypertrophy	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Asymmetry of jaw	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Maxillary asymmetry due to hemifacial atrophy	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Asymmetry of mandible	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Asymmetry of inferior border of mandible	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Velamentous insertion of umbilical cord	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Asymmetry of maxilla	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Four vessels in umbilical cord (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Congenital malformation of left ear with impairment of hearing	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Impairment of hearing of right ear co-occurrent and due to congenital ear malformation (disorder)	Associated morphology	True	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	1
Photoonycholysis	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2
Nodular elastosis with cysts and comedones (disorder)	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	3
Sunburn of third degree	Associated morphology	False	Morphologically abnormal structure (morphologic abnormality)	Inferred relationship	Some	2

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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)