SNOMED Clinical Terms - Congenital absence - Terms | NCBO BioPortal

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Preferred Name	Congenital absence
Synonyms	Congenital aplasia Agenesis Congenital absence (morphologic abnormality) Agenesis, NOS Congenital absence, NOS Congenital aplasia, NOS
ID	24216005
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/24216005
associated_morphology_of	Cervical hemivertebra- balanced Congenital absence of large intestine Hemicentric cervical centrum Congenital absence of bronchus Congenital absence of chordae tendineae Bilateral acheiria Aplasia cutis in Johanson-Blizzard syndrome False anodontia Congenital absence of basioccipital bone Transverse arrest phalangeal level first ray Congenital absence of duodenum Congenital aniridia Leydig cell agenesis Aganglionosis of parasympathetic nerve ganglia Traumatic aniridia Congenital absence of thumb Congenital absence of mouth Congenital absence of pelvis and lower limb Congenital absence of ischium Congenital tibial deficiency type III Phocomelia Congenital absence of broad ligament Absent pulmonary trunk Cervical hemivertebra Congenital absence of hyoid bone Pulmonary trunk absent with absent pulmonary artery Congenital absence of tendon Aplasia cutis congenita due to teratogenic drug (Type 7) Dominant dystrophic epidermolysis bullosa with absence of skin Pulmonary trunk absent with absent left pulmonary artery Common atrioventricular-type ventricular septal defect Absent left atrioventricular valve leaflets Congenital absence of pulmonary valve Atresia and stenosis of large intestine, rectum and anal canal Congenital absence of tibia Amyelia Congenital absence of lobe of lung Congenital absence of arch of thoracic vertebra Transverse deficiency of toe Poland anomaly Congenital absence of vertebra Congenital absence of spermatic cord Congenital absence of claw Congenital absence of papillary muscle Congenital absence of fourth and fifth toes Familial hypodontia Ablepharon Congenital alopecia Congenital absence of centrum of cervical vertebra Congenital complete absence of upper limb Congenital absence of lower limb Absent mitral papillary muscle Lumbar hemivertebra - unbalanced Congenital absence of rectum with fistula Congenital absence of ureter Congenital absence of metacarpal bone Thymic aplasia or dysplasia with immunodeficiency Congenital bilateral aplasia of vas deferens Congenital absence of membranous labyrinth Congenital absence of pubis Univentricular atrioventricular connection with absent right sided atrioventricular connection Phocomelia of upper limb Hemicentric lumbar centrum Acrania Functional asplenia Cervical hemivertebra - unbalanced Transverse arrest phalangeal level second ray Congenital absence of basisphenoid bone Congenital agenesis of brainstem nuclei Absent left atrioventricular valve papillary muscle Agenesis of clavicle Congenital absence of jejunum Complete phocomelia of upper limb Congenital absence of nose Atrioventricular septal defect - isolated atrial component Podencephalus Congenital absence of tibia AND fibula Agenesis of nerve Congenital absence of lacrimal bone Congenital absence of rib Congenital absence of skin on scalp Congenital fibular deficiency type I Hemicephaly Congenital absence of trachea Aplasia cutis congenita following intra-uterine infection (Type 8) Congenital absence of clitoris Congenital aplasia of odontoid process Congenital absence of germinal epithelium of testes Congenital absence of portal vein Congenital absence of toe Congenital absence of vomer Congenital absence of superior vena cava Congenital absence of ilium Absent venous duct with direct connection of umbilical vein to right atrium Total congenital alopecia Congenital absence of fibula Congenital absence of all fingers Aplasia cutis congenita due to underlying malformation (Type 4) Congenital absence of uvula Congenital absence of aorta Congenital absence of centrum of thoracic vertebra Absent pulmonary valve syndrome Agenesis of larynx, trachea and bronchus Congenital absence of gallbladder Congenital absence of ulna Congenital absence of renal papilla Aplasia cutis congenita Congenital absence of epididymis Total anodontia of permanent and deciduous teeth Congenital hemivertebra Congenital absence of spine Aniridia type 1 Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve Congenital absence of radius Congenital absence of great toe Holoacardius amorphus Hemianencephaly Congenital absence of sternebra Congenital absence of centrum of sacral vertebra Congenital absence of lung fissures Bilateral right-sidedness sequence Congenital absence, atresia and stenosis of large intestine Congenital absence of skeletal muscle Congenital absence of metatarsal bone Agenesis of cerebellum Congenital absence of hepatic ducts Congenital absence of arch of sacral vertebra Thoracic hemivertebra- balanced Hemicentric sacral centrum Agenesis of multiple tarsal bones Congenital absence of urethra Acephalocheiria Congenital absence of one tooth Congenital absence of calcaneus Right ventricular outflow tract absent Congenital absence of ductus arteriosus Transverse arrest phalangeal level third ray Congenital absence of ileum Congenital absence of eyelash Congenital absence of appendix Common atrioventricular canal Congenital absence of vein Congenital absence of nasal bone Rokitansky sequence Congenital absence of arch of lumbar vertebra Congenital absence of stomach Congenital fibular deficiency type II Congenital absence of skin on scalp with epidermal nevi Holoanencephaly Amyelencephalus Absence of mitral chordae tendinae Aplasia cutis congenita secondary to malformation syndrome (Type 9) Cor biloculare Atresia of pulmonary trunk with absent left pulmonary artery Congenital absence of zygomatic bone Congenital absence of interparietal bone DiGeorge sequence Congenital absence of esophagus Anophthalmos Small intestine atresia and stenosis Aplasia cutis congenita associated with fetus papyraceus (Type 5) Congenital absence of paw Complete aphalangia of upper limb Absent venous duct with direct connection of umbilical vein to renal vein Adactyly Roberts-SC phocomelia syndrome Congenital absence of thoracic vertebra Congenital absence of uterus Congenital absence of upper limb Congenital absence of exoccipital bone Congenital absence of ear Pulmonary atresia with absent pulmonary artery Agenesis of bronchus Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum Agenesis of cerebrum Congenital absence of tricuspid valve Absent right atrioventricular valve leaflets Congenital absence of lung Hypoplasia of pulmonary cusps of absent pulmonary valve type Congenital absence of lacrimal drainage structure Congenital absence of arch of cervical vertebra Congenital absence of bladder Congenital absence of supraoccipital bone Aniridia type 2 Congenital absence of fifth toe Agenesis of both forepaws and both hindpaws Agenesis of carpals and metacarpals Imperforate large intestine Amelia Congenital absence of salivary gland Congenital absence of nasal turbinate Congenital absence of vagina Congenital absence of sacral vertebra Congenital absence of lobe of liver Congenital absence of nipple Agenesis of nasal cartilages Hemicentric thoracic centrum Congenital absence of penis Congenital absence of prostate Anodontia of primary dentition Congenital absence of carpal bone Congenital absence of pectoral muscle Acephaly Congenital absence of femur Absent right atrioventricular valve papillary muscle Agenesis of 1st metatarsal Congenital absence of eye bulge Acardiac monster Acardiacus anceps Hemicentric caudal centrum Aglossia-adactyly syndrome Tetralogy of Fallot with absent pulmonary valve Congenital absence of centrum of lumbar vertebra Agenesis of eye Vertical alopecia Congenital fibular deficiency type III Congenital absence of auricle with stenosis of auditory canal Congenital absence of alisphenoid bone Congenital absence of palatine bone Congenital aplasia of round ligament Acheiropodia Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) Congenital absent hemidiaphragm - bilateral Congenital absence of anus Congenital absence of forearm with hand AND fingers Congenital absence of vas deferens Congenital absence of leg with foot AND toes Tricuspid valve primary chords absent Thoracic hemivertebra Anencephalus Congenital absence of aortic valve Congenital abnormal fusion of tibia Atresia of pulmonary trunk with absent right pulmonary artery Agenesis of pulmonary artery Anomalies of cerebellum Congenital absence of jaw Congenital absence of labium minor Known OR suspected fetal anencephaly affecting obstetrical care Sacral hemivertebra Single artery AND vein of umbilical cord Absent aortic valve cusp Aplasia cutis in Trisomy 13 syndrome Congenital tibial deficiency type I Congenital absence of ossicles of ear Congenital absence of eustachian tube Congenital absence of skull bone Congenital absence of thymus Pulmonary trunk absent with absent right pulmonary artery Congenital localized alopecia Congenital absence of subclavian artery Congenital absence of multiple toes Agenesis of larynx Congenital absence of artery Congenital absence of forepaw phalanx Congenital alopecia with keratin cysts Agenesis of corpus callosum Absent eyebrow Atrichia congenita Congenital absence of tail Absent testicle (congenital) Congenital absence of muscle AND/OR tendon Hypogonadism with prune belly syndrome Mullerian aplasia Congenital absence of foot Congenital absence of sternum Anodontia Congenital absence of nasal septum Congenital aplasia of inner ear Congenital absence of breast Aicardi's syndrome Congenital absence of scapula Congenital absence of leg and foot Agenesis of right lung Agenesis of fifth metatarsal Congenital absence of genital tubercle Congenital absence of cervix Anodontia of permanent dentition Congenital absence of arch of caudal vertebra Congenital absence of parathyroid gland Congenital absence of chin Acephalostomia Holoacardius acephalus Bilateral congenital absence of feet Sutural alopecia Congenital absence of all toes Congenital absence of lumbar vertebra Congenital absence of parietal bone Agenesis of tarsals and metatarsals Sacral agenesis Agenesis of punctum lacrimale Lumbar hemivertebra Agenesis of nasolacrimal duct Congenital absence of azygos vein Agenesis of corpus callosum with lipoma Absence of pulmonary valve cusp Congenital absence of right pulmonary artery Congenital absence of bile duct Congenital absence of labium major Right atrial appendage absent Congenital absence of breast with absent nipple Congenital absence of vulva Absent venous duct Congenital absence of quadriceps muscle Atelomyelia Agenesis of multiple metatarsal bones Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type Congenital tibial deficiency type II Congenital absence of tympanic anulus Congenital absence of external auditory canal Congenital absence of liver Tongue absent Holoacardius acormus Pulmonary trunk absent with confluent pulmonary arteries Totally absent pericardium Congenital absence of diaphragm Congenital absence of thyroid gland Congenital absence of vena cava Congenital absence of frontal bone Congenital absence of pancreas Oligohydramnios sequence Congenital absence of left pulmonary artery Cor triloculare Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery Congenital absence of pituitary gland Renal agenesis Congenital absence of talus Congenital absence of esophagus with tracheo-esophageal fistula Anonychia with bizarre flexural pigmentation Univentricular atrioventricular connection with absent left sided atrioventricular connection Fusion of lobes of lung Congenital absence of squamosal bone Congenital absence of coronary sinus Monophthalmos Congenital absence of skeletal bone Left atrial appendage absent Common atrium Absent tricuspid leaflet Complete aphalangia of lower limb Single inlet ventricle with absent atrioventricular connection Ventricular septal defect with absent outlet septum and overriding truncal valve Agenesis of left lung Unilobar lung Congenital absence of centrum of caudal vertebra Congenital absence of gonads Aplasia of the cochlea and vestibular labyrinth Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim Triangular alopecia Thoracic hemivertebra - unbalanced Congenital absence of mandible Congenital absence of heart structure Congenital absence of premaxilla Prune belly syndrome Transverse arrest phalangeal level fourth ray Congenital aplasia of scrotum Congenital absence, atresia and stenosis of small intestine Absent venous duct with direct connection of umbilical vein to inferior caval vein Congenital absence of external ear Anorectal agenesis Adams-Oliver syndrome Congenital absence of small intestine Congenital absence of carotid artery Absent common atrioventricular valve papillary muscle Longitudinal absence of radius AND ulna Prune belly syndrome with pulmonic stenosis, mental retardation and deafness Acraniate monster Incomplete anencephaly Congenital absence of patella Cryptophthalmos syndrome Congenital aphakia Congenital absence of intestinal tract Acephalorhachia Congenital cystic eyeball Absent tricuspid papillary muscle Acardia Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) Pulmonary trunk absent with non-confluent pulmonary arteries Agenesis of lower vagina Partial defect of ulna Congenital absence of hindpaw phalanx Congenital absence of auricle with atresia of auditory canal Congenital absence of coronary artery Congenital absence of spleen Total anodontia of permanent dentition Congenital absence of tarsal bone Congenital absence of ear lobe Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery Absence of primary mitral chordae tendinae Congenital absence of finger Congenital absence of hand Congenital absence of rectum Congenital absence of cervical vertebra Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) Monorchism Congenital absence of abdominal muscle Congenital absence of mitral valve Holoacardius 11p partial monosomy syndrome Congenital absence of cranial vault Anonychia Congenital absence of caudal vertebra Agenesis of fourth and fifth metatarsals Congenital absence of anus with fistula Congenital absence of ovary Solitary arterial trunk Congenital generalized alopecia Transverse arrest phalangeal level fifth ray Lumbar hemivertebra - balanced Congenital absence of inferior vena cava Congenital absence of alimentary tract Congenital absence of arm AND forearm Congenital absence of presphenoid bone Aplasia of muscle Congenital absence of adrenal gland Congenital absence of maxilla Congenital absence of both testes Anencephalus and similar anomalies Aplasia of penis
CONCEPTSTATUS	0
CTV3ID	XUA8j
direct_morphology_of	Correction of congenital absence of radius Construction of anus for congenital absence with repair of urinary fistula
isa	Absence Aplasia Congenital malformation
ISPRIMITIVE	1
Semantic_Type	Congenital Abnormality
SNOMEDID	M-21000
SYNONYM FN	Congenital absence (morphologic abnormality)
SYNONYM IS	Agenesis, NOS Congenital absence, NOS Congenital aplasia, NOS
SYNONYM SY	Congenital aplasia Agenesis
TUI	T019
UMLS_CUI	C0332907

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