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24216005: Congenital absence (morphologic abnormality)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital absence Is a Aplasia true Inferred relationship Some
Congenital absence Is a Congenital anomaly false Inferred relationship Some
Congenital absence Is a Congenital malformation false Inferred relationship Some
Congenital absence Is a Absence false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Anodontia of primary dentition Associated morphology False Congenital absence Inferred relationship Some 1
Anodontia of permanent dentition Associated morphology False Congenital absence Inferred relationship Some 1
Congenital bilateral aplasia of vas deferens Associated morphology False Congenital absence Inferred relationship Some 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Associated morphology False Congenital absence Inferred relationship Some 3
Anonychia with bizarre flexural pigmentation Associated morphology False Congenital absence Inferred relationship Some 3
Acephalogaster Associated morphology False Congenital absence Inferred relationship Some 1
Ear auricle and external auditory canal absent Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of bladder and urethra Associated morphology False Congenital absence Inferred relationship Some 1
Alymphoid cystic thymic dysgenesis Associated morphology False Congenital absence Inferred relationship Some 1
Taurodontia with absent teeth and sparse hair syndrome Associated morphology False Congenital absence Inferred relationship Some 3
Congenital amputation of upper limb Associated morphology False Congenital absence Inferred relationship Some 1
Atrichia with papular lesions Associated morphology False Congenital absence Inferred relationship Some 2
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Hydranencephaly with proliferative vasculopathy Associated morphology False Congenital absence Inferred relationship Some 1
Bilateral congenital absence of fallopian tube Associated morphology False Congenital absence Inferred relationship Some 1
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Recessive aplasia cutis congenita of limbs Associated morphology False Congenital absence Inferred relationship Some 1
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Hydranencephaly Associated morphology False Congenital absence Inferred relationship Some 1
Deafness and oligodontia syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Tetralogy of Fallot with absent pulmonary valve Associated morphology False Congenital absence Inferred relationship Some 1
Fibular aplasia and ectrodactyly syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Anonychia with microcephaly syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Ablepharon macrostomia syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Bilateral congenital absence of ovary Associated morphology False Congenital absence Inferred relationship Some 1
Fetal anencephaly Associated morphology False Congenital absence Inferred relationship Some 1
Congenital hypoplasia of ulna and split foot syndrome Associated morphology False Congenital absence Inferred relationship Some 3
Aplasia cutis with myopia syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Some 3
Split hand, split foot malformation with sensorineural hearing loss syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Absent thumb with short stature and immunodeficiency syndrome Associated morphology False Congenital absence Inferred relationship Some 2
EEM syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Omocephalus Associated morphology False Congenital absence Inferred relationship Some 1
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Associated morphology False Congenital absence Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Choroidal atrophy and alopecia syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Aphalangy and syndactyly with microcephaly syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Pericardial and diaphragmatic defect syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Hypogonadism with prune belly syndrome Associated morphology False Congenital absence Inferred relationship Some 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia Associated morphology False Congenital absence Inferred relationship Some 1
Intellectual disability, balding, patella luxation, acromicria syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Gomez Lopez Hernandez syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Other specified anencephalus Associated morphology False Congenital absence Inferred relationship Some 1
Anencephalus NOS Associated morphology False Congenital absence Inferred relationship Some 1
Anencephalus and similar anomalies NOS Associated morphology False Congenital absence Inferred relationship Some 1
Clinical anophthalmos, unspecified Associated morphology False Congenital absence Inferred relationship Some 1
Anophthalmos NOS Associated morphology False Congenital absence Inferred relationship Some 1
Absence of artery NEC Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of lung NOS Associated morphology False Congenital absence Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Other congenital anomaly of penis Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence finger NOS Associated morphology False Congenital absence Inferred relationship Some 11
Agenesis of other tarsal bone Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of other tarsal bone Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of other metatarsal Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of other metatarsal Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of other multiple metatarsal Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of other multiple metatarsal Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of other lesser toe Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of other multiple toes Associated morphology False Congenital absence Inferred relationship Some 1
Oligodontia and cancer predisposition syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of pubis NEC Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of vertebra NOS Associated morphology False Congenital absence Inferred relationship Some 1
Congenital alopecia, unspecified Associated morphology False Congenital absence Inferred relationship Some 1
Congenital alopecia NOS Associated morphology False Congenital absence Inferred relationship Some 1
[X]Other anophthalmos Associated morphology False Congenital absence Inferred relationship Some 1
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Didymosis aplasticosebacea Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of left forearm and hand Associated morphology False Congenital absence Inferred relationship Some 4
Congenital absence of left forearm and hand Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of left forearm and hand Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of left forearm and hand Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of right forearm and hand Associated morphology False Congenital absence Inferred relationship Some 4
Congenital absence of right forearm and hand Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of right forearm and hand Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of right forearm and hand Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of external ear, unspecified Associated morphology False Congenital absence Inferred relationship Some 1
Other absent muscle Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of nose NOS Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of muscle or tendon NOS Associated morphology False Congenital absence Inferred relationship Some 1
[EDTA] Syndrome of agenesis of abdominal muscles (Prune belly syndrome) associated with renal failure Associated morphology False Congenital absence Inferred relationship Some 2
Oligodontia Associated morphology False Congenital absence Inferred relationship Some 1
Transverse arrest carpal level Associated morphology False Congenital absence Inferred relationship Some 1
Transverse arrest metacarpal first ray Associated morphology False Congenital absence Inferred relationship Some 1
Intrauterine amputation of lower limb Associated morphology False Congenital absence Inferred relationship Some 1
Transverse deficiency of hand Associated morphology False Congenital absence Inferred relationship Some 1
Transverse arrest metacarpal second to fifth rays Associated morphology False Congenital absence Inferred relationship Some 1
Cor biloculare Associated morphology False Congenital absence Inferred relationship Some 2
Moynahan syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of body of uterus Associated morphology False Congenital absence Inferred relationship Some 1
Epidermolysis bullosa simplex with hypodontia Associated morphology False Congenital absence Inferred relationship Some 3

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Reference Sets

Body structure foundation reference set

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