418560003: Absence (morphologic abnormality)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2573418018 Absence (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2576693013 Absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4153581000005113 mangel 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
Absence (morphologic abnormality)	Is a	Morphologically abnormal structure	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Left atrial appendage absent	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of tricuspid papillary muscle (disorder)	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Absent right superior vena cava	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Bilateral split foot	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	4
Congenital split of bilateral hands (disorder)	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	4
Acardia	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Acephalogaster	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Acephalogaster	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital tibial deficiency type III	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Acephalobrachius	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Acephalobrachius	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of mitral valve	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of nasal turbinate	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of nasal septum	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Monophthalmos	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of papillary muscle	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of renal papilla	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of tricuspid valve	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of subclavian artery	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of thyroid gland	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
hemicentrisk centrum i halshvirvels corpus vertebrae	Associated morphology	False	Absence (morphologic abnormality)	Inferred relationship	Some	1
hemicentrisk lændehvirvels corpus vertebrae	Associated morphology	False	Absence (morphologic abnormality)	Inferred relationship	Some	1
hemicentrisk centrum i sakralhvirvels corpus vertebrae	Associated morphology	False	Absence (morphologic abnormality)	Inferred relationship	Some	1
hemicentrisk centrum i brysthvirvels corpus vertebrae	Associated morphology	False	Absence (morphologic abnormality)	Inferred relationship	Some	1
Familial hypodontia	Associated morphology	False	Absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of skeletal bone	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of liver and/or gallbladder (disorder)	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of lung fissures	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of anus with fistula	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of rectum with fistula	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	2
Acrania	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Complete phocomelia of upper limb	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of the spinal cord and brain	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of spermatic cord	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Cor biloculare	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Cor biloculare	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	2
Acardius	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of metacarpal bone	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of aortic valve	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of carotid artery	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of ductus arteriosus	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Bilateral complete phocomelia of upper limb	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	3
Hemimyelia	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Tongue absent	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of inferior vena cava	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of large intestine	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Partial aphalangia of upper limb	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Podencefalus	Associated morphology	False	Absence (morphologic abnormality)	Inferred relationship	Some	1
Aganglionosis of parasympathetic nerve ganglia	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of upper arm AND forearm	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of upper arm AND forearm	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of muscle AND/OR tendon	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Acephalocheiria	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Acephalocheiria	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	2
Acephalocheiria	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	3
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	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of skeletal muscle	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Omocephalus	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of coronary sinus	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of superior vena cava	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of pectoral muscle	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of small intestine	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Hydranencephaly (disorder)	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Hydranencephaly with proliferative vasculopathy	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of auricle with atresia of auditory canal	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies.	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	2
Hemicephaly	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of salivary gland	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of membranous labyrinth	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Prune belly syndrome	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of coronary artery	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of vas deferens	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Rokitanskys sekvens	Associated morphology	False	Absence (morphologic abnormality)	Inferred relationship	Some	1
Rokitanskys sekvens	Associated morphology	False	Absence (morphologic abnormality)	Inferred relationship	Some	2
Rokitanskys sekvens	Associated morphology	False	Absence (morphologic abnormality)	Inferred relationship	Some	3
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder)	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Hypogonadism with prune belly syndrome	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	3
Phocomelia	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of external auditory canal	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Longitudinal absence of radius AND ulna	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Longitudinal absence of radius AND ulna	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Incomplete congenital absence of thigh AND leg	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected.	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	2
kongenit manglende hoved og rygmarv	Associated morphology	False	Absence (morphologic abnormality)	Inferred relationship	Some	1
kongenit manglende hoved og rygmarv	Associated morphology	False	Absence (morphologic abnormality)	Inferred relationship	Some	2
Partial congenital absence of limb	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Single umbilical cord artery type II	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Single umbilical cord artery type I (disorder)	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Single umbilical cord artery type III (disorder)	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Single umbilical cord artery type IV (disorder)	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Phocomelia of lower limb	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Acquired partial absence of breast (disorder)	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of bilateral tibias	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of bilateral tibias	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absence of bilateral ulnas	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital absence of bilateral ulnas	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	2
Absent kidney	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1
Left kidney absent (finding)	Associated morphology	True	Absence (morphologic abnormality)	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
2573418018	Absence (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2576693013	Absence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4153581000005113	mangel	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)