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
Klinefelter's syndrome, XXYY (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Klinefelter's syndrome, XY/XXY mosaic	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Additional sex chromosome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Sex chromosome mosaicism (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Mosaic XO/XY	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Mosaic XO/XX	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Mosaic XY/XXY	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Mosaic including XXXXY	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Duplication of chromosome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Acephalothorax	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Preauricular sinus, pit or fistula	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Thoracolumbar spina bifida without hydrocephalus - closed	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Thoracolumbar spina bifida without hydrocephalus - closed	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Fissured spine	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Fissured spine	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Myelocele with hydrocephalus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Closed spina bifida with Arnold-Chiari malformation	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Closed spina bifida with Arnold-Chiari malformation	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Arachnoid / ependymal cyst	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Mermaid sirenomelia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hypoplasia of brain gyri	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
Branchial cleft	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Malformation of throat	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Absence of sex chromosome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Pseudotrisomy 18	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Autosomal deletion - mosaicism	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Spina bifida without hydrocephalus - open	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Spina bifida without hydrocephalus - open	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Ear auricle and external auditory canal absent	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Branchial cleft sinus and fistula	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Deletion of long arm of chromosome 18	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Deletion of short arm of chromosome 18	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital malformation of ear	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Klinefelter's syndrome XXXY	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of nervous system of head/neck (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Syringomyelia or syringobulbia NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Iniencephaly NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Iniencephaly NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Iniencephaly NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Unspecified spina bifida with hydrocephalus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Unspecified spina bifida with hydrocephalus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Spina bifida with hydrocephalus, unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Spina bifida with hydrocephalus, unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Other specified spina bifida with hydrocephalus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Other specified spina bifida with hydrocephalus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other spina bifida with hydrocephalus NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Other spina bifida with hydrocephalus NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Spina bifida with hydrocephalus NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Spina bifida with hydrocephalus NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Spina bifida without mention of hydrocephalus, site unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Spina bifida without mention of hydrocephalus, site unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Unspecified spina bifida without mention of hydrocephalus NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Unspecified spina bifida without mention of hydrocephalus NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Spinal hydromeningocele, unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Spinal hydromeningocele NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Spinal meningocele of unspecified site	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Spinal meningocele NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Meningomyelocele of unspecified site	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Meningomyelocele NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Myelocele of unspecified site	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Myelocele NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Myelocystocele of unspecified site	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Myelocystocele of unspecified site	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Myelocystocele NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Myelocystocele NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Unspecified spina bifida without hydrocephalus - open	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Unspecified spina bifida without hydrocephalus - open	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Spina bifida without hydrocephalus - open NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Spina bifida without hydrocephalus - open NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Unspecified spina bifida without hydrocephalus - closed	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Unspecified spina bifida without hydrocephalus - closed	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Spina bifida NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Spina bifida NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Other nervous system congenital anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Agenesis of brain, part unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Aplasia of brain, part unspecified	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
Anomaly of cerebrum NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomaly of cerebellum NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Other specified reduction deformities of brain	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other reduction deformity of brain NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified brain anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital cerebral cyst NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified brain anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified spinal cord anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified spinal cord anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified spinal cord anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Spinal cord anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Spinal cord anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Other specified nervous system anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Agenesis of nerve, unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified nervous system anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Agenesis of nerve NEC	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Unspecified nervous system anomaly of brain, cord and nervous system	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Unspecified nervous system anomaly NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Nervous system anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Middle ear anomaly NEC NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1

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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)