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

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