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24216005: Congenital absence (morphologic abnormality)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
40644015 Congenital absence en Synonym Active Case insensitive SNOMED CT core
40645019 Congenital absence, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
40646018 Congenital aplasia, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
40647010 Agenesis, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
40648017 Congenital aplasia en Synonym Inactive Initial character case insensitive SNOMED CT core
40649013 Agenesis en Synonym Inactive Case insensitive SNOMED CT core
753828014 Congenital absence (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

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 Congenital anomaly false Inferred relationship Some
Congenital absence Is a Congenital malformation false Inferred relationship Some
Congenital absence Is a Absence false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Aniridia, ptosis, intellectual disability, familial obesity syndrome Associated morphology False Congenital absence Inferred relationship Some 1
EEM syndrome Associated morphology False Congenital absence Inferred relationship Some 7
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Associated morphology False Congenital absence Inferred relationship Some 4
Curry Jones syndrome Associated morphology False Congenital absence Inferred relationship Some 5
Choroidal atrophy and alopecia syndrome Associated morphology False Congenital absence Inferred relationship Some 8
Total congenital alopecia Associated morphology False Congenital absence Inferred relationship Some 1
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology False Congenital absence Inferred relationship Some 4
Short tarsus with absence of lower eyelashes syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of pelvis and lower limb Associated morphology False Congenital absence Inferred relationship Some 3
Fibular aplasia and ectrodactyly syndrome Associated morphology False Congenital absence Inferred relationship Some 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology False Congenital absence Inferred relationship Some 5
Lung agenesis with heart defect and thumb anomaly syndrome Associated morphology False Congenital absence Inferred relationship Some 3
Agenesis of internal carotid artery Associated morphology False Congenital absence Inferred relationship Some 1
Scalp, ear, nipple syndrome Associated morphology False Congenital absence Inferred relationship Some 5
Alymphoid cystic thymic dysgenesis Associated morphology False Congenital absence Inferred relationship Some 5
Karsch Neugebauer syndrome Associated morphology False Congenital absence Inferred relationship Some 9
Intellectual disability, balding, patella luxation, acromicria syndrome Associated morphology False Congenital absence Inferred relationship Some 5
Congenital absence of gastric muscle Associated morphology False Congenital absence Inferred relationship Some 1
Gomez Lopez Hernandez syndrome Associated morphology False Congenital absence Inferred relationship Some 6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Associated morphology False Congenital absence Inferred relationship Some 4
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi Associated morphology False Congenital absence Inferred relationship Some 3
Lumbosacral agenesis Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of ovary Associated morphology False Congenital absence Inferred relationship Some 1
Toriello Lacassie Droste syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Recessive aplasia cutis congenita of limbs Associated morphology False Congenital absence Inferred relationship Some 2
Split hand, split foot malformation with sensorineural hearing loss syndrome Associated morphology False Congenital absence Inferred relationship Some 8
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Omocephalus Associated morphology False Congenital absence Inferred relationship Some 2
Omocephalus Associated morphology False Congenital absence Inferred relationship Some 3
Acephalobrachius Associated morphology False Congenital absence Inferred relationship Some 1
Fetal anencephaly Associated morphology False Congenital absence Inferred relationship Some 2
Anencephaly without rachischisis Associated morphology False Congenital absence Inferred relationship Some 1
Sirenomelus Associated morphology False Congenital absence Inferred relationship Some 2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome Associated morphology False Congenital absence Inferred relationship Some 3
Pericardial and diaphragmatic defect syndrome Associated morphology False Congenital absence Inferred relationship Some 7
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
Familial isolated congenital asplenia Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of skeletal bone Associated morphology False Congenital absence Inferred relationship Some 1
Autosomal recessive amelia Associated morphology False Congenital absence Inferred relationship Some 3
Craniosynostosis fibular aplasia syndrome Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of portal vein Associated morphology False Congenital absence Inferred relationship Some 1
Czeizel Losonci syndrome Associated morphology False Congenital absence Inferred relationship Some 10
Congenital absence of bile duct Associated morphology False Congenital absence Inferred relationship Some 1
Congenital hypoplasia of ulna and split foot syndrome Associated morphology False Congenital absence Inferred relationship Some 6
Incomplete anencephaly Associated morphology False Congenital absence Inferred relationship Some 1
Ablepharon Associated morphology False Congenital absence Inferred relationship Some 1
Pseudoprogeria syndrome Associated morphology False Congenital absence Inferred relationship Some 9
Congenital absence of lobe of liver Associated morphology False Congenital absence Inferred relationship Some 1
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology False Congenital absence Inferred relationship Some 3
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Associated morphology False Congenital absence Inferred relationship Some 3
Pseudoprogeria syndrome Associated morphology False Congenital absence Inferred relationship Some 8
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology False Congenital absence Inferred relationship Some 4
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
Congenital achiasma Associated morphology False Congenital absence Inferred relationship Some 1
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Associated morphology False Congenital absence Inferred relationship Some 6
Complete congenital absence of teeth Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of leg with foot AND toes Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of uterus Associated morphology False Congenital absence Inferred relationship Some 1
Bilateral right-sidedness sequence 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 forearm and hand Associated morphology False Congenital absence Inferred relationship Some 4
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Some 5
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Some 6
Congenital absence of earlobe Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of 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
Congenital absence of right mandibular condyle Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of left mandibular condyle 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 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 oesophagus Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of liver Associated morphology False Congenital absence Inferred relationship Some 1
Acraniate monster 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 anomaly 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
Congenital absence of forearm with hand AND fingers Associated morphology False Congenital absence Inferred relationship Some 1

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Reference Sets

Body structure foundation reference set

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