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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
Anodontia of primary dentition morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Anodontia of permanent dentition morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital bilateral aplasia of vas deferens morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Anonychia with bizarre flexural pigmentation morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Acephalogaster morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Ear auricle and external auditory canal absent morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of bladder and urethra (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Taurodontia with absent teeth and sparse hair syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
amputation congénitale d'un membre supérieur morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Atrichia with papular lesions (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Hydranencephaly with proliferative vasculopathy morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Bilateral congenital absence of fallopian tube (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability 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 1
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
hydranencéphalie morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Deafness and oligodontia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Tetralogy of Fallot with absent pulmonary valve (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aplasia of fibula and ectrodactyly syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Anonychia with microcephaly syndrome (disorder) 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 2
Ablepharon macrostomia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Bilateral congenital absence of ovary (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Fetal anencephaly (disorder) 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 3
Aplasia cutis with myopia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) 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 1
Congenital absence of forearm and hand morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Congenital absence of forearm and hand morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Split hand, split foot malformation with sensorineural hearing loss syndrome morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Absent thumb with short stature and immunodeficiency syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Omocephalus morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
syndrome de prune belly avec sténose pulmonaire, arriération mentale et surdité morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Choroidal atrophy and alopecia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aphalangy and syndactyly with microcephaly syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Pericardial and diaphragmatic defect syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Hypogonadism with prune belly syndrome morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Intellectual disability, balding, patella luxation, acromicria syndrome (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 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Other specified anencephalus morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Anencephalus NOS morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Anencephalus and similar anomalies NOS morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Clinical anophthalmos, unspecified morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Anophthalmos NOS morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Absence of artery NEC morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Agenesis of lung NOS morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
syndrome de dysplasie spondylo-épimétaphysaire-dentition anormale morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Other congenital anomaly of penis morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence finger NOS morphologie associée (attribut) False Congenital absence Inferred relationship Some 11
Agenesis of other tarsal bone morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Agenesis of other tarsal bone morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Agenesis of other metatarsal morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Agenesis of other metatarsal morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Agenesis of other multiple metatarsal morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Agenesis of other multiple metatarsal morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of other lesser toe morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of other multiple toes morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Oligodontia and cancer predisposition syndrome morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Congenital absence of pubis NEC morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of vertebra NOS morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital alopecia, unspecified morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital alopecia NOS morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
[X]Other anophthalmos morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
SCALP syndrome morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Didymosis aplasticosebacea (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of left forearm and hand (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Congenital absence of left forearm and hand (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of left forearm and hand (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Congenital absence of left forearm and hand (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Congenital absence of right forearm and hand morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Congenital absence of right forearm and hand morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Congenital absence of right forearm and hand morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Congenital absence of right forearm and hand morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of external ear, unspecified morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Other absent muscle morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of nose NOS morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of muscle or tendon NOS morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
[EDTA] Syndrome of agenesis of abdominal muscles (Prune belly syndrome) associated with renal failure morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Oligodontia morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Transverse arrest carpal level morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Transverse arrest metacarpal first ray morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Intrauterine amputation of lower limb morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Transverse deficiency of hand morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Transverse arrest metacarpal second to fifth rays morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Cor biloculare morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Alopecia, epilepsy, intellectual disability syndrome Moynahan type morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of body of uterus (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Epidermolysis bullosa simplex with hypodontia morphologie associée (attribut) False Congenital absence Inferred relationship Some 3

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