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 absence of right atrioventricular valve papillary muscle (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Absent left atrioventricular valve leaflets	Associated morphology	True	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of left atrioventricular valve papillary muscle	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of spine	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital agenesis of brainstem nuclei	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of heart structure (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of lobe of liver	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of upper limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of pelvis and lower limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of pelvis and lower limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Longitudinal absence of radius AND ulna	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of all fingers	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of upper arm AND forearm	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Rokitansky sequence (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of cerebrum	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Anomalies of cerebellum	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
agenesie van oog	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of chin (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of larynx, trachea and bronchus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of larynx, trachea and bronchus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Agenesis of larynx, trachea and bronchus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Agenesis of bronchus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of larynx	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of esophagus with tracheo-esophageal fistula	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital aplasia of scrotum	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of leg and foot	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of fingers	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
congenitale afwezigheid van carpus en metacarpus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
congenitale afwezigheid van carpus en metacarpus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence finger NOS	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of spine NEC	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Bilateral congenital absence of feet (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Holoanencephaly (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Tetralogy of Fallot with absent pulmonary valve (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	5
Congenital absence of tibia AND fibula	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Congenital absence of tibia AND fibula	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
agenesie van tarsus en metatarsus (aandoening)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
agenesie van tarsus en metatarsus (aandoening)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Acephalocheiria	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Acephalocheiria	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Aglossia-adactyly syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Aglossia-adactyly syndrome	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	2
Congenital absence of basisphenoid 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 presphenoid bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of supraoccipital 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
Known OR suspected fetal anencephaly affecting obstetrical care	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 thumb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of thumb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
congenitale alopecia totalis (aandoening)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
congenitale alopecia totalis (aandoening)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of fourth and fifth toes	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	2
Congenital absence of pelvis and lower limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of pelvis and lower limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Agenesis of larynx, trachea and bronchus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Agenesis of larynx, trachea and bronchus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Agenesis of larynx, trachea and bronchus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
congenitale afwezigheid van carpus en metacarpus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
congenitale afwezigheid van carpus en metacarpus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
anodontie van melkgebit en blijvend gebit	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
anodontie van melkgebit en blijvend gebit	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Adams-Oliver syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Adams-Oliver syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Traumatic aniridia (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of lacrimal drainage structure (disorder)	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
Congenital absence of tibia AND fibula	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
agenesie van tarsus en metatarsus (aandoening)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
agenesie van tarsus en metatarsus (aandoening)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Acephalocheiria	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Acephalocheiria	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Aglossia-adactyly syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Aglossia-adactyly syndrome	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	2
Congenital absence of basisphenoid 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 presphenoid bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of supraoccipital 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
Known OR suspected fetal anencephaly affecting obstetrical care	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 thumb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of thumb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
congenitale alopecia totalis (aandoening)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
congenitale alopecia totalis (aandoening)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of fourth and fifth toes	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	2
Congenital absence of pelvis and lower limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of pelvis and lower limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Agenesis of larynx, trachea and bronchus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of larynx, trachea and bronchus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Agenesis of larynx, trachea and bronchus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
congenitale afwezigheid van carpus en metacarpus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
congenitale afwezigheid van carpus en metacarpus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
anodontie van melkgebit en blijvend gebit	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
anodontie van melkgebit en blijvend gebit	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
753828014	Congenital absence (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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)