24216005: congenitale afwezigheid (afwijkende morfologie)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure (morphologic abnormality)\...

\Absence (morphologic abnormality)\Aplasia\Congenital absence (morphologic abnormality)

\Growth alteration\Maturation defect\Aplasia\Congenital absence (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
Congenital absence (morphologic abnormality)	Is a	Aplasia	true	Inferred relationship	Some
Congenital absence (morphologic abnormality)	Is a	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Congenital absence (morphologic abnormality)	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital absence (morphologic abnormality)	Is a	Absence (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital unilateral absence	Is a	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some
Agenesis of multiple tissues	Is a	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some
Congenital bilateral absence	Is a	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some
Congenital partial absence	Is a	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some
Agenesis of both forepaws and both hindpaws	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of punctum lacrimale	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Ostium secundum type atrial septal defect	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of jejunum	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of ileum	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital atresia of appendix	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of hepatic ducts	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia of penis	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Partial radial absence	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Partial radial absence	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Partial defect of ulna	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Partial defect of ulna	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Transverse arrest phalangeal level first ray	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Transverse arrest phalangeal level second ray	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Transverse arrest phalangeal level third ray	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Transverse arrest phalangeal level fourth ray (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Transverse arrest phalangeal level fifth ray	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital tibial deficiency type I	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital tibial deficiency type I	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital tibial deficiency type II	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital tibial deficiency type II	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Congenital tibial deficiency type III	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital tibial deficiency type III	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Congenital fibular deficiency type I	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital fibular deficiency type I	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	8
Congenital fibular deficiency type II (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital fibular deficiency type II (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	8
Congenital fibular deficiency type III	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital fibular deficiency type III	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	8
Agenesis of multiple tarsal bones	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of multiple tarsal bones	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of first metatarsal (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of first metatarsal (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of fifth metatarsal	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of fifth metatarsal	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of fourth and fifth metatarsals	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of fourth and fifth metatarsals	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of great toe	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of fifth toe	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of fourth and fifth toes	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia of muscle	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital localised alopecia	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of pituitary gland	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aniridia type 1	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aniridia type 2	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of left pulmonary artery	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
False anodontia	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of one tooth	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
congenitale hypodontie van meerdere gebitselementen zonder verband met systeemziekte (aandoening)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
congenitale hypodontie van meerdere gebitselementen door systeemziekte	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Familial hypodontia	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
verlies van lengte van tandboog door congenitaal ontbrekende gebitselementen (aandoening)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of pectoral muscle	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Acquired anophthalmos	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Traumatic aniridia (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Aplasia of the cochlea and vestibular labyrinth	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Absence of semicircular canal	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of right pulmonary artery	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Agenesis of left lung	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Hypogonadism with prune belly syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of coronary artery	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Anonychia with bizarre flexural pigmentation	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Hypodontia and nail dysgenesis	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Known OR suspected fetal anencephaly affecting obstetrical care	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of skin on scalp	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of skin on scalp with epidermal naevi	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of tibia AND fibula	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Adactylia	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of nose	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of breast	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of vulva	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of nerve	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of right lung	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of alisphenoid bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of basioccipital bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of basisphenoid bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Congenital absence of caudal vertebra	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of cervical vertebra	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of exoccipital bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of frontal bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of interparietal bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of lacrimal bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of parietal bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of presphenoid bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of supraoccipital bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of zygomatic bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Solitary arterial trunk	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Absent mitral papillary muscle	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Absent pulmonary valve syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Pulmonary trunk absent with confluent pulmonary arteries	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Pulmonary trunk absent with non-confluent pulmonary arteries	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Pulmonary trunk absent with absent pulmonary artery	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia of gallbladder (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital unilateral absence of hemidiaphragm	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absent hemidiaphragm - bilateral	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Mullerian aplasia	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1

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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
40644015	Congenital absence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
40645019	Congenital absence, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
40646018	Congenital aplasia, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
40647010	Agenesis, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
40648017	Congenital aplasia	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
40649013	Agenesis	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
753828014	Congenital absence (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
752661000146118	agenesie (afwijkende morfologie)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
752671000146112	agenesie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
916581000146111	congenitale afwezigheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
916591000146113	aangeboren afwezigheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4676411000146116	congenitale afwezigheid (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)