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49755003: morfologische afwijking (afwijkende morfologie)


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

Descriptions:

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)


5612 descendants. Search Descendants:

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
Congenital enterocyte heparan sulfate deficiency (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
X-linked intellectual disability Abidi type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cleidocranial dysostosis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Mesonephric cyst Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Arterial malformation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of exoccipital bone Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Nemaline myopathy Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Hydatid cyst of Morgagni - male Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Amegakaryocytic thrombocytopenia with congenital malformation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Kagami Ogata syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
syndroom van dun haar met kleine gestalte en huidanomalie (aandoening) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Juvenile pelvis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Spina bifida with stenosis of aqueduct of Sylvius Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Scapulohumeral muscular dystrophy Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital anomaly of musculoskeletal structure of trunk Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth defects Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Major systemic to pulmonary collateral artery supplying unknown zone of distribution Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Major systemic to pulmonary collateral artery supplying unknown zone of distribution Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of ovary Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
False tendon - heart Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Isolated cryptophthalmos (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital malformation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Dentinogenesis imperfecta - Shield's type III Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Retrosternal thyroid gland Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Hydromyelia Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hydromyelia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Congenital tracheal collapse (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Synophrys Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Synophrys Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Crouzon syndrome with acanthosis nigricans (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital anomaly of the peripheral nervous system Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cockayne syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital buried penis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Prader-Willi-like syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Odontomicronychial ectodermal dysplasia (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Fetal toluene syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital systemic venous atrium Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of fibula Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Manitoba oculotrichoanal syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
syndroom van autisme en faciale naevus flammeus Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of ureter and renal pelvis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital anomaly of ureter and renal pelvis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, polydactyly, uncombable hair syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Defect of skull ossification Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
MVRCS-associatie Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of tongue, salivary gland AND/OR pharynx Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Flat palate Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of the kidney Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Uterus bicameratus vetularum Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Renal pelvis and ureter obstructive defects (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Anorectal anomaly Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Pelvis plana Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Oro-facial digital syndrome type 9 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Oro-facial digital syndrome type 9 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Oro-facial digital syndrome type 9 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Oro-facial digital syndrome type 9 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Amaurosis hypertrichosis syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Abnormal course of aortic arch (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Dyssegmental dysplasia with glaucoma syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Ectopia cordis Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital abnormality of liver and/or biliary tract (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Euryblepharon (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Andersen Tawil syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Andersen Tawil syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Dysmorphism Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Lack of ossification of hyoid bone Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Gomez Lopez Hernandez syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Congenital anomaly of nose Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
syndroom van Simpson-Golabi-Behmel type 2 Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Congenital pulmonary lymphatic dysplasia syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Brachypellic pelvis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of fetal head bones Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Embryotoxon (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant muscular dystrophy not predominantly limb girdle Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Double orifice of tricuspid valve Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Double orifice of tricuspid valve Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital anomaly of larynx Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of anterior chamber of eye Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Penile hypospadias (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Severe X-linked myotubular myopathy (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
bilateraal atrium van hart Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Coarctation of pulmonary artery Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
syndroom van neuro-ectodermale en endocriene afwijkingen (aandoening) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
syndroom van neuro-ectodermale en endocriene afwijkingen (aandoening) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital anomaly of spine Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of choroid Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of bone of shoulder girdle (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of middle ear Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Wilson Turner syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) 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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