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782173000: Agenesis (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3752699013 Agenesis (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3752700014 Agenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3752699013 Agenesis (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3752700014 Agenesis en Synonym (core metadata concept) 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
Agenesis (morphologic abnormality) Is a Aplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital absence of radius Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of pubis Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of basioccipital bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of testis (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of fifth metatarsal Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of calcaneus Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of carpal bone Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of humerus Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of vulva Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of centrum of cervical vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of centrum of sacral vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of multiple metatarsal bones Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of cervical vertebra Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of parietal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of foot (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of tarsals and metatarsals Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of tarsals and metatarsals Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of diaphragm Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of presphenoid bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of ossicles of ear Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of ilium (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Amyelia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Oligohydramnios sequence Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Oligohydramnios sequence Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of interparietal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of arch of lumbar vertebra (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of fourth and fifth metatarsals Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Agenesis of fourth and fifth metatarsals Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of lumbar vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of metacarpal bone Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of metatarsal bone (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of vagina Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of liver Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of thymus (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of carpals and metacarpals Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Agenesis of carpals and metacarpals Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of nipple Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of vertebra Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of thoracic vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of nasal bone Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of lobe of liver (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of femur Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acheiropodia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acheiropodia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Acheiropodia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acheiropodia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Agenesis of multiple tarsal bones Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital agenesis of brainstem nuclei Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Vici syndrome (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of basisphenoid bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of clitoris Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital absence of feet (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital absence of feet (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of both testes (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of both testes (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of eyelash Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of corpus callosum and abnormal genitalia syndrome Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of gallbladder (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of frontal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of larynx, trachea and bronchus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of larynx, trachea and bronchus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Agenesis of larynx, trachea and bronchus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of tarsal bone Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of hyoid bone Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated arhinencephaly Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated arhinencephaly Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of ischium Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of centrum of lumbar vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
WNT4 Mullerian aplasia and ovarian dysfunction Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of parathyroid gland Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of cerebellum and hydrocephalus syndrome (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of corpus callosum with lipoma Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of punctum lacrimale (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of arch of sacral vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around a hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial haemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of squamosal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of centrum of thoracic vertebra (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of trachea Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of right kidney co-occurrent with hypoplasia of left kidney (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of tympanic anulus (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of uterus Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of zygomatic bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of intestinal tract Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete ablepharon Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mullerian aplasia Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetramelic monodactyly (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of eustachian tube Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Duane-radial ray syndrome Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2

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