24216005: Congenital absence (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure\...

\Absence (morphologic abnormality)\Aplasia\Congenital absence

\Growth alteration\Maturation defect\Aplasia\Congenital absence

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

2615451000005119 agenesi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital absence	Is a	Aplasia	true	Inferred relationship	Some
Congenital absence	Is a	kongenit anomali	false	Inferred relationship	Some
Congenital absence	Is a	Kongenit malformation	false	Inferred relationship	Some
Congenital absence	Is a	Absence (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mullerian aplasia (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Agenesis of lower vagina	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of labium minor	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of labium major	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Agenesis of multiple metatarsal bones	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Agenesis of multiple metatarsal bones	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital alopecia with keratin cysts	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital complete absence of lower limb	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital generalised alopecia	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of thumb	Associated morphology	False	Congenital absence	Inferred relationship	Some	2
Congenital absence of tendon	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of breast with absent nipple	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Hemicephaly	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of multiple toes	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Kongenit total alopeci	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of ovary	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of sternum	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital atresia of cardiac valve	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of skeletal bone	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of portal vein	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of bile duct	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Incomplete anencephaly	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Ablepharon	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of lobe of liver	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of lobe of lung	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of vertebra	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of membranous labyrinth	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Anodonti i blivende tænder og primære tænder	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Kongenit manglende ben inklusive fod OG tæer	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of uterus	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Ivemarks syndom	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of urethra	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of ear lobe	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of urinary bladder	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Hemispheric cerebellar agenesis	Associated morphology	False	Congenital absence	Inferred relationship	Some	2
Congenital absence of salivary gland	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Phocomelia	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Anonychia	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of broad ligament	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of uvula	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of vena cava (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of rectum	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of external auditory canal	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Anodontia	Associated morphology	False	Congenital absence	Inferred relationship	Some
Congenital absence of superior vena cava	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of small intestine	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital alopecia	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Adams-Oliver syndrome	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of bronchus	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital aphakia	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Aplasia cutis congenita	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of esophagus	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of liver	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Akraniat misfoster	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of all toes	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of cervix	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Functional asplenia	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance.	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of skeletal muscle	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of auricle with atresia of auditory canal	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of trachea	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of coronary sinus	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of vein	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Kongenit manglende underarm med hånd OG fingre	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
11p partial monosomy syndrome	Associated morphology	False	Congenital absence	Inferred relationship	Some	4
Congenital absence of foot	Associated morphology	False	Congenital absence	Inferred relationship	Some
Congenital absence of abdominal muscle	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Acardiacus anceps	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of auricle with stenosis of auditory canal	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Partial aphalangia of upper limb	Associated morphology	False	Congenital absence	Inferred relationship	Some	3
Atelomyelia	Associated morphology	False	Congenital absence	Inferred relationship	Some	3
Congenital absence of femur	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of femur	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of humerus	Associated morphology	False	Congenital absence	Inferred relationship	Some	2
Congenital absence of muscle AND/OR tendon	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital anisocoria	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of finger	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Podencefalus	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of all fingers	Associated morphology	False	Congenital absence	Inferred relationship	Some	11
Congenital absence of prostate	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Prune belly syndrome	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of ulna	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of ulna	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of vas deferens	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Hemispheric cerebral agenesis	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Leydig cell agenesis	Associated morphology	False	Congenital absence	Inferred relationship	Some	5
Leydig cell agenesis	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of external ear	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of larynx	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of tibia and fibula	Associated morphology	False	Congenital absence	Inferred relationship	Some	3
Congenital absence of tibia and fibula	Associated morphology	False	Congenital absence	Inferred relationship	Some	8
Congenital cystic eyeball	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of large intestine	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of penis	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of clitoris	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital complete absence of limb	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Enkelt umbilikalarterie og -vene	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Acephalocheiria	Associated morphology	False	Congenital absence	Inferred relationship	Some	2
Congenital absence of eyelash	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Aganglionosis of parasympathetic nerve ganglia	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Partial congenital absence of teeth	Associated morphology	False	Congenital absence	Inferred relationship	Some	1

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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
2615451000005119	agenesi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)