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418560003: 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
8681000077116 absence fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

17 descendants. Search Descendants:

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 False 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
Hemicentric cervical centrum Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Hemicentric lumbar centrum Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Hemicentric sacral centrum Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Hemicentric thoracic centrum 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
Podencephalus 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
A rare congenital malformation characterised by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. 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 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
aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin avec développement normal des caractères sexuels secondaires et caryotype normal Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin avec développement normal des caractères sexuels secondaires et caryotype normal Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin avec développement normal des caractères sexuels secondaires et caryotype normal 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
Acephalorhachia Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Acephalorhachia 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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