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45486003: Aplasia (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module
75833016 Aplasia en Synonym Active Case insensitive SNOMED CT core
782730017 Aplasia (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Aplasia Is a Absence true Inferred relationship Some
Aplasia Is a Maturation defect true Inferred relationship Some
Aplasia Is a Developmental abnormality false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Constitutional red cell aplasia and hypoplasia Associated morphology False Aplasia Inferred relationship Some 1
Absent radius, anogenital anomalies syndrome Associated morphology True Aplasia Inferred relationship Some 3
Other specified constitutional aplastic anaemia Associated morphology False Aplasia Inferred relationship Some 1
Constitutional aplastic anaemia NOS Associated morphology False Aplasia Inferred relationship Some 1
[X]Other acquired pure red cell aplasias Associated morphology False Aplasia Inferred relationship Some 1
[X]Acquired pure red cell aplasia, unspecified Associated morphology False Aplasia Inferred relationship Some 1
Crane Heise syndrome Associated morphology True Aplasia Inferred relationship Some 2
Cervical hemivertebra Associated morphology True Aplasia Inferred relationship Some 1
Joubert syndrome with ocular defect Associated morphology True Aplasia Inferred relationship Some 1
Congenital bilateral aplasia of vas deferens Associated morphology True Aplasia Inferred relationship Some 1
Joubert syndrome with hepatic defect Associated morphology True Aplasia Inferred relationship Some 1
Thymic aplasia or dysplasia with immunodeficiency Associated morphology True Aplasia Inferred relationship Some 1
Lumbar hemivertebra Associated morphology True Aplasia Inferred relationship Some 1
Cervical hemivertebra- balanced Associated morphology True Aplasia Inferred relationship Some 1
Cervical hemivertebra - unbalanced Associated morphology True Aplasia Inferred relationship Some 1
Oculocerebral dysplasia syndrome Associated morphology False Aplasia Inferred relationship Some 1
Thoracic hemivertebra- balanced Associated morphology True Aplasia Inferred relationship Some 1
Thoracic hemivertebra - unbalanced Associated morphology True Aplasia Inferred relationship Some 1
Complete congenital absence of teeth Associated morphology False Aplasia Inferred relationship Some 3
Lumbar hemivertebra - balanced Associated morphology True Aplasia Inferred relationship Some 1
Fibular aplasia and ectrodactyly syndrome Associated morphology True Aplasia Inferred relationship Some 2
Joubert syndrome with Jeune asphyxiating thoracic dystrophy Associated morphology True Aplasia Inferred relationship Some 2
Lumbar hemivertebra - unbalanced Associated morphology True Aplasia Inferred relationship Some 1
Isolated hereditary congenital facial paralysis Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of lacrimal and salivary gland Associated morphology True Aplasia Inferred relationship Some 1
Thoracic hemivertebra Associated morphology True Aplasia Inferred relationship Some 1
Joubert syndrome with renal defect Associated morphology True Aplasia Inferred relationship Some 1
Joubert syndrome with orofaciodigital defect Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of muscle Associated morphology True Aplasia Inferred relationship Some 1
Tibial aplasia and ectrodactyly syndrome Associated morphology True Aplasia Inferred relationship Some 1
Sacral hemivertebra Associated morphology True Aplasia Inferred relationship Some 1
Complete congenital absence of teeth Associated morphology False Aplasia Inferred relationship Some 2
Scalp, ear, nipple syndrome Associated morphology True Aplasia Inferred relationship Some 2
Gomez Lopez Hernandez syndrome Associated morphology True Aplasia Inferred relationship Some 2
Robinow syndrome Associated morphology True Aplasia Inferred relationship Some 3
Pancytopenia with developmental delay syndrome Associated morphology True Aplasia Inferred relationship Some 1
Secondary red cell aplasia NEC Associated morphology False Aplasia Inferred relationship Some 1
Lung agenesis with heart defect and thumb anomaly syndrome Associated morphology True Aplasia Inferred relationship Some 1
Agenesis of enamel Associated morphology False Aplasia Inferred relationship Some 1
Partial pancreatic agenesis Associated morphology True Aplasia Inferred relationship Some 1
Partial agenesis of pericardium Associated morphology True Aplasia Inferred relationship Some 1
Bilateral right-sidedness sequence Associated morphology False Aplasia Inferred relationship Some 1
Agenesis Is a True Aplasia Inferred relationship Some
Acephalostomia Associated morphology True Aplasia Inferred relationship Some 1
Partial absence of radius Associated morphology True Aplasia Inferred relationship Some 1
Temtamy syndrome Associated morphology True Aplasia Inferred relationship Some 4
Ablepharon Associated morphology False Aplasia Inferred relationship Some 1
Hydranencephaly Associated morphology False Aplasia Inferred relationship Some 2
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome Associated morphology True Aplasia Inferred relationship Some 3
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology True Aplasia Inferred relationship Some 1
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Associated morphology False Aplasia Inferred relationship Some 3
Partial agenesis of corpus callosum Associated morphology False Aplasia Inferred relationship Some 1
Hemicephaly Associated morphology False Aplasia Inferred relationship Some 2
Curry Jones syndrome Associated morphology True Aplasia Inferred relationship Some 3
Hydranencephaly with proliferative vasculopathy Associated morphology False Aplasia Inferred relationship Some 2
Congenital absence of part of brain Associated morphology False Aplasia Inferred relationship Some 1
Congenital tibial deficiency type II Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of uterine cervix Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of body of uterus Associated morphology True Aplasia Inferred relationship Some 1
Hereditary isolated aplastic anaemia Associated morphology True Aplasia Inferred relationship Some 1
Absent thumb with short stature and immunodeficiency syndrome Associated morphology True Aplasia Inferred relationship Some 1
Mullerian aplasia Associated morphology True Aplasia Inferred relationship Some 1
WNT4 Mullerian aplasia and ovarian dysfunction Associated morphology True Aplasia Inferred relationship Some 2
Ablepharon of bilateral eyelids Associated morphology False Aplasia Inferred relationship Some 1
Ablepharon of bilateral eyelids Associated morphology False Aplasia Inferred relationship Some 2
Congenital absence of seminal vesicle Associated morphology True Aplasia Inferred relationship Some 1
Transverse deficiency Is a True Aplasia Inferred relationship Some
Autosomal dominant Robinow syndrome Associated morphology True Aplasia Inferred relationship Some 4
Autosomal recessive Robinow syndrome Associated morphology True Aplasia Inferred relationship Some 4
B cell lymphocyte aplasia due to drug Associated morphology True Aplasia Inferred relationship Some 1
Congenital absence of skin on scalp with epidermal naevi Associated morphology True Aplasia Inferred relationship Some 2
Totally absent pericardium Associated morphology True Aplasia Inferred relationship Some 1
Congenital absence of germinal epithelium of testes Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita Associated morphology True Aplasia Inferred relationship Some 1
Adams-Oliver syndrome Associated morphology True Aplasia Inferred relationship Some 1
Congenital absence of skin on scalp Associated morphology True Aplasia Inferred relationship Some 2
Aplasia cutis congenita due to underlying malformation (Type 4) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita associated with fetus papyraceus (Type 5) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita due to teratogenic drug (Type 7) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita following intra-uterine infection (Type 8) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita secondary to malformation syndrome (Type 9) Associated morphology True Aplasia Inferred relationship Some 1
Oculocerebrocutaneous syndrome Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis in Trisomy 13 syndrome Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis in Johanson-Blizzard syndrome Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis with myopia syndrome Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome Associated morphology True Aplasia Inferred relationship Some 2
Toriello Lacassie Droste syndrome Associated morphology True Aplasia Inferred relationship Some 2
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Associated morphology True Aplasia Inferred relationship Some 2
Didymosis aplasticosebacea Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita of limb Associated morphology True Aplasia Inferred relationship Some 2
Recessive aplasia cutis congenita of limbs Associated morphology True Aplasia Inferred relationship Some 2
Partial absence of septum pellucidum Associated morphology True Aplasia Inferred relationship Some 1
Congenital partial absence of gastric muscle Associated morphology True Aplasia Inferred relationship Some 1
Transient acquired pure red cell aplasia Associated morphology True Aplasia Inferred relationship Some 4
Constitutional aplastic anaemia without mention of malformation Associated morphology False Aplasia Inferred relationship Some 1
Constitutional aplastic anaemia with malformation Associated morphology False Aplasia Inferred relationship Some 1
Acquired aplastic anaemia NOS Associated morphology False Aplasia Inferred relationship Some 1
Congenital absence Is a True Aplasia Inferred relationship Some
Aplasia of skin Associated morphology False Aplasia Inferred relationship Some 1

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Reference Sets

Body structure foundation reference set

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