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24216005: 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:

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
40645019 Congenital absence, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
40646018 Congenital aplasia, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
40647010 Agenesis, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
40648017 Congenital aplasia en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
40649013 Agenesis en Synonym (core metadata concept) Inactive 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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital absence est un(e) (attribut) Aplasia true Inferred relationship Some
Congenital absence est un(e) (attribut) Congenital anomaly false Inferred relationship Some
Congenital absence est un(e) (attribut) Congenital malformation false Inferred relationship Some
Congenital absence est un(e) (attribut) Absence (morphologic abnormality) false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 7
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Curry Jones syndrome morphologie associée (attribut) False Congenital absence Inferred relationship Some 5
Choroidal atrophy and alopecia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 8
Total congenital alopecia morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Short tarsus with absence of lower eyelashes syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Congenital absence of pelvis and lower limb morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Aplasia of fibula and ectrodactyly syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 5
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Agenesis of internal carotid artery (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Scalp, ear, nipple syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 5
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 5
Karsch Neugebauer syndrome morphologie associée (attribut) False Congenital absence Inferred relationship Some 9
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 5
Congenital absence of gastric muscle (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Gomez Lopez Hernandez syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Lumbosacral agenesis morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Congenital absence of ovary morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Autosomal recessive aplasia cutis congenita of limb (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Split hand, split foot malformation with sensorineural hearing loss syndrome morphologie associée (attribut) False Congenital absence Inferred relationship Some 8
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Omocephalus morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Omocephalus morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Acephalobrachius morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Fetal anencephaly (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Anencephaly without rachischisis (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Sirenomelus (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Pericardial and diaphragmatic defect syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 7
Congenital absence of sternum morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital atresia of cardiac valve morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Familial isolated congenital asplenia (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of skeletal bone morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Autosomal recessive amelia (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Craniosynostosis fibular aplasia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Congenital absence of portal vein morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 10
Congenital absence of bile duct morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital hypoplasia of ulna and split foot syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 6
Incomplete anencephaly morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Ablepharon morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Pseudoprogeria syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 9
Congenital absence of lobe of liver morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aniridia, renal agenesis, psychomotor retardation syndrome morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Pseudoprogeria syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 8
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Congenital absence of lobe of lung morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of vertebra morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of membranous labyrinth morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of optic chiasma (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 6
Total anodontia of permanent and deciduous teeth morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of leg with foot AND toes morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of uterus morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Bilateral right-sidedness sequence morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of urethra morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of forearm and hand morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Congenital absence of forearm and hand morphologie associée (attribut) False Congenital absence Inferred relationship Some 5
Congenital absence of forearm and hand morphologie associée (attribut) False Congenital absence Inferred relationship Some 6
Congenital absence of ear lobe morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of bladder morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Hemispheric cerebellar agenesis morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Congenital absence of salivary gland morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Phocomelia morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of right mandibular condyle morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of left mandibular condyle morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Anonychia morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of broad ligament morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of uvula morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of vena cava morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of rectum morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of external auditory canal morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
anodontie morphologie associée (attribut) False Congenital absence Inferred relationship Some
Congenital absence of superior vena cava morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of small intestine morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital alopecia morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
syndrome d'Adams-Oliver (trouble) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of bronchus morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital aphakia morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
aplasia cutis congenita (trouble) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of oesophagus morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of liver morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Acraniate monster morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of all toes morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of cervix morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Functional asplenia morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Poland anomaly morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of skeletal muscle morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of auricle with atresia of auditory canal morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of trachea (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of coronary sinus morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of vein morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of forearm with hand AND fingers morphologie associée (attribut) False Congenital absence Inferred relationship Some 1

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