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
Transverse arrest phalangeal level third ray	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
Agenesis of cerebellum	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of arch of caudal vertebra	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of centrum of caudal vertebra	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of centrum of sacral vertebra	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Acephalorhachia	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
Congenital absence of heart structure (disorder)	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
Aplasia cutis in Johanson-Blizzard syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of bile duct (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia cutis in Trisomy 13 syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of arch of cervical vertebra	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Cor triloculare biventriculare (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of parathyroid gland	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	1
Congenital absence of superior vena cava	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Common atrioventricular canal	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Longitudinal deficiency of tarsal bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Acardius	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
Agenesis of cerebrum	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
Acardia	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of intestinal tract	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 nasal bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of scapula	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of thoracic vertebra	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of zygomatic bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Acardiacus anceps	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of external ear	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Unilobar lung	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
Congenital absence of finger	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Monorchism	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Podencephalus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of nipple	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
DiGeorge-syndroom (aandoening)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Sutural alopecia (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of lacrimal drainage structure (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital aphakia	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of cervix	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of skeletal muscle	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Absent eyebrow	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of caudal vertebra	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Holoacardius acormus	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
Transverse deficiency of toe	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Fusion of lobes of lung	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of centrum of cervical vertebra	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of external ear, unspecified	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of spermatic cord (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of ischium	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of coronary sinus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Prune belly syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of vertebra NOS	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of nose NOS	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Leydig cell agenesis	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some
Agenesis of nasal cartilages	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
Congenital alopecia with keratin cysts	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of genital tubercle	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
Congenital absence of salivary gland	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Absent right atrioventricular valve leaflets	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of corpus callosum with lipoma	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Amyelencephalus (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia cutis congenita	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Total anodontia of permanent dentition	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of other tarsal bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of mitral valve	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Agenesis of pulmonary artery	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of claw	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of breast with absent nipple	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
unilaterale agenesie van cerebellum (situatie)	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
Absent left atrioventricular valve leaflets	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of artery	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of tarsal bone	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of arch of thoracic vertebra	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of alimentary tract	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
Totally absent pericardium	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Tongue absent	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of right atrioventricular valve papillary muscle (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of other multiple toes	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of other lesser toe	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
Other absent muscle	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of quadriceps muscle (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of pancreas	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of other multiple toes	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of other lesser toe	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Other absent muscle	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
11p partial monosomy syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Aplasia of muscle	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Renal agenesis	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)