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24216005: Congenital absence (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital absence Is a Aplasia true Inferred relationship Existential restriction modifier
Congenital absence Is a Congenital anomaly false Inferred relationship Existential restriction modifier
Congenital absence Is a Congenital malformation false Inferred relationship Existential restriction modifier
Congenital absence Is a Absence false Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital absence of innominate vein Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Congenital absence of left foot Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of lower leg and foot Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of lower leg and foot Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Congenital absence of right foot Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 5
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Congenital absence of right hemidiaphragm Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of left testis Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of right testis Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of left hemidiaphragm Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Common atrioventricular canal Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Atrioventricular septal defect - isolated atrial component Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Ventricular septal defect with absent outlet septum and overriding truncal valve Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Robin sequence and oligodactyly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Alopecia, progressive neurological defect, endocrinopathy syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Ectrodactyly polydactyly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Postaxial tetramelic oligodactyly Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Thumb deformity, alopecia, pigmentation anomaly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Ectodermal dysplasia syndactyly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Anonychia with bizarre flexural pigmentation Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Acephalogaster Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Ear auricle and external auditory canal absent Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of bladder and urethra Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Taurodontia with absent teeth and sparse hair syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Congenital amputation of upper limb Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Atrichia with papular lesions Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Hydranencephaly with proliferative vasculopathy Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Bilateral congenital absence of fallopian tube Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Autosomal recessive aplasia cutis congenita of limb Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Hydranencephaly Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Deafness and oligodontia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Tetralogy of Fallot with absent pulmonary valve Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Aplasia of fibula and ectrodactyly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Anonychia with microcephaly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Ablepharon macrostomia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Bilateral congenital absence of ovary Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Fetal anencephaly Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital hypoplasia of ulna and split foot syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Aplasia cutis with myopia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Split hand, split foot malformation with sensorineural hearing loss syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Absent thumb with short stature and immunodeficiency syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Short tarsus with absence of lower eyelashes syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Omocephalus Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Choroidal atrophy and alopecia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Aphalangy and syndactyly with microcephaly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Pericardial and diaphragmatic defect syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Hypogonadism with prune belly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Intellectual disability, balding, patella luxation, acromicria syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Gomez Lopez Hernandez syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Acro-dermato-ungual-lacrimal-tooth syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Oligodontia and cancer predisposition syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Sebaceous nevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Didymosis aplasticosebacea Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of left forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 4
Congenital absence of left forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of left forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Congenital absence of left forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Congenital absence of right forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 4
Congenital absence of right forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Congenital absence of right forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Congenital absence of right forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Oligodontia Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Transverse arrest carpal level Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Transverse arrest metacarpal first ray Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Intrauterine amputation of lower limb Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Transverse deficiency of hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Transverse arrest metacarpal second to fifth rays Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Cor biloculare Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of body of uterus Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Epidermolysis bullosa simplex with hypodontia Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Congenital absence of skin on scalp Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Pulmonary trunk absent with absent pulmonary artery Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Pulmonary trunk absent with absent left pulmonary artery Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Pulmonary trunk absent with absent right pulmonary artery Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Aplasia cutis congenita of limb Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Congenital absence of epiglottis Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of all bilateral toes Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1

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