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
Keratolytic winter erythema	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Xeroderma pigmentosum	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital stenosis of external auditory canal	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Familial absence of villi	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cervical myelocystocele (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Blunderbuss pelvis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
congenitale afwijking van uterus - bevallen met postpartale complicatie (aandoening)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital atrophy of left lobe of liver (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Pyelon triplex	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Other congenital malformations of middle ear	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Spina bifida without mention of hydrocephalus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomaly of dental arch	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Partial trisomy 18 in Edward's syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Persistent Gartner's duct	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Persistent thyroglossal duct	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Certain congenital musculoskeletal deformities	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital thickening of talus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Unbalanced translocation and insertion	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Congenital anomaly of sclera	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
8p partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Congenital anomaly of tympanic anulus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Myotubular myopathy with type I atrophy	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital branched rib cartilage (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Other congenital malformations of spine, not associated with scoliosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Congenital malformation of aortic and mitral valves unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
prenatale zorg gecompliceerd door uterus bicornis - nog niet bevallen	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital contracted pelvis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Xeroderma pigmentosum, group B	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
5p partial trisomy	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Incomplete ossification of metacarpal bone	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Laryngeal hypoplasia (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other failure of differentiation, skeletal tissues of arm	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital polyp of ureter	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cerebro-oculo-facio-skeletal syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cutaneous lesion resulting from spinal dysraphism (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified skin anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Other congenital malformations of bony thorax	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital stricture of osseous meatus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Myocardial bridge of coronary artery (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hooded penis (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital hypoplasia of carpal bone	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital malformation of pancreas	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Other specified ear anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital tracheo-oesophageal cleft	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Pulmonary trunk stenosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Bipartite ossification of centrum of lumbar vertebra	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Retinal dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Other congenital malformations of upper limb(s), including shoulder girdle	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Bipartite ossification of centrum of caudal vertebra	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Complete trisomy 20 syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Deletion seen only at prometaphase	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Eruption cyst of jaw (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Reduction deformity of upper limb NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Congenital malformations of the respiratory system	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of lower trunk	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Diffuse retinal dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
verkorte tandboog door verlies van blijvende gebitselementen	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Acephalothorax	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified ichthyosis congenita	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of musculoskeletal system by body site	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other overgrowth of upper limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Status marmoratus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
congenitale fissuur van larynx (aandoening)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital diverticulum of ureter (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Other congenital malformations of ribs	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Congenital malformation of great arteries, unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Triplex ureter (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hypoplasia of brain, part unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Lumbosacral agenesis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Ring chromosome 20 syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Other carpal synostosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Sacral dysgenesis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of upper trunk	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
DiGeorge-syndroom (aandoening)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Camptodactyly-little finger	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital obstructive defect of renal pelvis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital aplasia of round ligament (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Incomplete ossification of metatarsal bone	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Chromosomal alterations of group E (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Cervical thyroid remnant	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Micropapilla	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital malposition of carpal bone	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Persistent lanugo	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Fallot's trilogy	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other failure of differentiation of soft tissue of arm	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Genitoperineal raphe cyst	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other congenital anomalies of shoulder	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Mesatipellic pelvis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Thyroglossal duct cyst	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital anomaly of organ of Corti	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other failure of differentiation skeletal tissues of arm NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of lymphatic structure of trunk (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Sacral spina bifida with hydrocephalus - open (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital thickening of rib	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Duplication of upper limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital stenosis of esophagus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Myelocystocele	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital thickening of radius (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Spina bifida with hydrocephalus - closed	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital ischemic atrophy of central nervous system structure	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
focale dermale hypoplasie syndroom	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2

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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)