107656002: congenitale anomalie (afwijkende morfologie)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
congenitale anomalie (afwijkende morfologie)	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some
congenitale anomalie (afwijkende morfologie)	Is a	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital bilateral perisylvian syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Right posterior open bite	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	6
Left posterior open bite	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	6
Lack of ossification of arch of lumbar vertebra	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital fusion of sacroiliac joint	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	5
Vitellointestinal band	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Bregeat's syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Infantile uterus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Cochleate uterus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital vesicoureterorenal reflux, bilateral	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital penile torsion	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type C (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Lissencephaly with cerebellar hypoplasia type F	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Lissencephaly type 1 due to doublecortin gene mutation (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Goniodysgenesis with intellectual disability and short stature syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Isolated lissencephaly type 1 without known genetic defect (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Craniotelencephalic dysplasia (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
X-linked lissencephaly with abnormal genitalia syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Lissencephaly syndrome Norman Roberts type (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	14
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	7
Disorder of sex development with intellectual disability syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	9
Carrier of haemochromatosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Macrocephaly, short stature, paraplegia syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	9
Congenital anomaly of mother complicating pregnancy (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Microlissencephaly micromelia syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	5
Carrier of chromosome translocation (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Carrier of beta thalassemia (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Carrier of hemoglobinopathy C disorder (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Carrier of alpha thalassemia (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Carrier of hemoglobinopathy E disorder (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Carrier of fragile X chromosome (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Carrier of high risk cancer mutation gene (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Carrier of heritable cancer (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Dandy-Walker malformation with postaxial polydactyly syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	12
Carrier of Duchenne muscular dystrophy (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Carrier of Canavan disease (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Carrier of hemoglobinopathy disorder (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Carrier of familial dysautonomia (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Carrier of muscular dystrophy (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Carrier of von Willebrand disease (finding)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Pseudovaginal perineoscrotal hypospadias	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
myofibrillaire myopathie	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hyalin myopathy	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
congenitale spondylolyse (aandoening)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Pituitary stalk interruption syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Longitudinal deficiency of upper arm (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Longitudinal deficiency of forearm	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital vascular anomaly of choroid of eye	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital vascular anomaly of choroid of eye	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital deformity of vestibulocochlear nerve (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital anomaly of renal artery (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Mosaic Turner syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Cervical spina bifida occulta (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Thoracic spina bifida occulta (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Lumbar spina bifida occulta (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of lymphatic vessel of lung	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of lymphatic vessel of lung	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
ziekte van Bethlem	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital anomaly of shoulder girdle (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of shoulder (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of wrist (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Femur-fibula-ulna complex (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Double outlet right ventricle with transposition of great vessels, interventricular septal defect and coarctation of aorta (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	7

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
172092016	Congenital anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1190181000146119	aangeboren afwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1190191000146117	congenitale anomalie (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1829111000146118	congenitale anomalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)