45486003: Aplasia (morphologic abnormality)

SNOMED CT Concept\Body structure (body structure)\Morphologically altered structure\Morphologically abnormal structure\...

\Absence (morphologic abnormality)\Aplasia

\Growth alteration\Maturation defect\Aplasia

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

75833016 Aplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

782730017 Aplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aplasia	Is a	Maturation defect	true	Inferred relationship	Some
Aplasia	Is a	anomalie du développement	false	Inferred relationship	Some
Aplasia	Is a	Absence (morphologic abnormality)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ectromelia of upper limb	Associated morphology	True	Aplasia	Inferred relationship	Some	2
Aplastic anaemia co-occurrent with human immunodeficiency virus infection	Associated morphology	True	Aplasia	Inferred relationship	Some	6
Aplastic anemia due to infection	Associated morphology	True	Aplasia	Inferred relationship	Some	2
Parvoviral aplastic crisis	Associated morphology	False	Aplasia	Inferred relationship	Some	2
Aplastic anemia caused by antineoplastic agent	Associated morphology	True	Aplasia	Inferred relationship	Some	3
Antibody mediated acquired pure red cell aplasia caused by erythropoiesis stimulating agent (disorder)	Associated morphology	False	Aplasia	Inferred relationship	Some	3
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.	Associated morphology	False	Aplasia	Inferred relationship	Some	3
A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.	Associated morphology	True	Aplasia	Inferred relationship	Some	2
A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.	Associated morphology	False	Aplasia	Inferred relationship	Some	3
A rare syndrome characterized by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5).	Associated morphology	True	Aplasia	Inferred relationship	Some	1
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	Associated morphology	False	Aplasia	Inferred relationship	Some	4
Oculocerebral dysplasia syndrome	Associated morphology	False	Aplasia	Inferred relationship	Some	3
Constitutional red cell hypoplasia	Associated morphology	False	Aplasia	Inferred relationship	Some	3
Transient erythroblastopenia of childhood	Associated morphology	True	Aplasia	Inferred relationship	Some	2
Acquired red cell aplasia	Associated morphology	True	Aplasia	Inferred relationship	Some	2
Constitutional red cell aplasia and hypoplasia	Associated morphology	False	Aplasia	Inferred relationship	Some	2
Antibody mediated acquired pure red cell aplasia caused by erythropoiesis stimulating agent (disorder)	Associated morphology	True	Aplasia	Inferred relationship	Some	1
A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.	Associated morphology	True	Aplasia	Inferred relationship	Some	1
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with retinal dystrophy.	Associated morphology	False	Aplasia	Inferred relationship	Some	2
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.	Associated morphology	False	Aplasia	Inferred relationship	Some	2
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.	Associated morphology	False	Aplasia	Inferred relationship	Some	8
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Associated morphology	False	Aplasia	Inferred relationship	Some	9
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	Associated morphology	False	Aplasia	Inferred relationship	Some	8
A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.	Associated morphology	True	Aplasia	Inferred relationship	Some	4
Pure red cell aplasia	Associated morphology	True	Aplasia	Inferred relationship	Some	2
Acute pure red cell aplasia	Associated morphology	True	Aplasia	Inferred relationship	Some	2
Congenital hypoplastic anemia	Associated morphology	False	Aplasia	Inferred relationship	Some	2
Chronic acquired pure red cell aplasia	Associated morphology	True	Aplasia	Inferred relationship	Some	2
Pure red cell aplasia, acquired	Associated morphology	False	Aplasia	Inferred relationship	Some	2
Congenital pure red cell aplasia	Associated morphology	False	Aplasia	Inferred relationship	Some	2
Congenital red cell hypoplasia	Associated morphology	False	Aplasia	Inferred relationship	Some	3
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.	Associated morphology	False	Aplasia	Inferred relationship	Some	4
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).	Associated morphology	False	Aplasia	Inferred relationship	Some	2
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterised by the neurological features of JS associated with both renal and ocular disease.	Associated morphology	True	Aplasia	Inferred relationship	Some	3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.	Associated morphology	False	Aplasia	Inferred relationship	Some	6
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterised by the neurological features of JS associated with both renal and ocular disease.	Associated morphology	False	Aplasia	Inferred relationship	Some	4
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.	Associated morphology	False	Aplasia	Inferred relationship	Some	8
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.	Associated morphology	False	Aplasia	Inferred relationship	Some	10
Aplasia of optic nerve (disorder)	Associated morphology	True	Aplasia	Inferred relationship	Some	1
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.	Associated morphology	False	Aplasia	Inferred relationship	Some	4
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.	Associated morphology	False	Aplasia	Inferred relationship	Some	6
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.	Associated morphology	False	Aplasia	Inferred relationship	Some	6
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.	Associated morphology	True	Aplasia	Inferred relationship	Some	5
Congenital aplasia of lacrimal structure (disorder)	Associated morphology	True	Aplasia	Inferred relationship	Some	1
An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.	Associated morphology	True	Aplasia	Inferred relationship	Some	1
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.	Associated morphology	False	Aplasia	Inferred relationship	Some	6
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.	Associated morphology	True	Aplasia	Inferred relationship	Some	2
Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.	Associated morphology	False	Aplasia	Inferred relationship	Some	3
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.	Associated morphology	False	Aplasia	Inferred relationship	Some	5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.	Associated morphology	False	Aplasia	Inferred relationship	Some	9
Aplasia of patella	Associated morphology	True	Aplasia	Inferred relationship	Some	1
Aplasia of auditory canal	Associated morphology	False	Aplasia	Inferred relationship	Some	1
A rare acquired aplastic anaemia characterised by a severe normocytic anaemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anaemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnoea) in the absence of haemorrhagic symptoms.	Associated morphology	True	Aplasia	Inferred relationship	Some	1
Estren-Dameshek anemia	Associated morphology	True	Aplasia	Inferred relationship	Some	4
Constitutional aplastic anemia	Associated morphology	True	Aplasia	Inferred relationship	Some	3
Constitutional aplastic anemia with malformation	Associated morphology	True	Aplasia	Inferred relationship	Some	3
Fanconi's anemia	Associated morphology	True	Aplasia	Inferred relationship	Some	4
Parvoviral aplastic crisis	Associated morphology	True	Aplasia	Inferred relationship	Some	4
Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.	Associated morphology	True	Aplasia	Inferred relationship	Some	1
A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.	Associated morphology	True	Aplasia	Inferred relationship	Some	3
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	Associated morphology	True	Aplasia	Inferred relationship	Some	2
Cervical hemivertebra	Associated morphology	True	Aplasia	Inferred relationship	Some	1
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with retinal dystrophy.	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 is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).	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
Anodontie	Associated morphology	False	Aplasia	Inferred relationship	Some	3
Lumbar hemivertebra - balanced	Associated morphology	True	Aplasia	Inferred relationship	Some	1
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.	Associated morphology	True	Aplasia	Inferred relationship	Some	2
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal 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 (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.	Associated morphology	True	Aplasia	Inferred relationship	Some	1
A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.	Associated morphology	True	Aplasia	Inferred relationship	Some	1
Thoracic hemivertebra	Associated morphology	True	Aplasia	Inferred relationship	Some	1
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.	Associated morphology	True	Aplasia	Inferred relationship	Some	1
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.	Associated morphology	True	Aplasia	Inferred relationship	Some	1
Aplasia of muscle	Associated morphology	True	Aplasia	Inferred relationship	Some	1
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.	Associated morphology	True	Aplasia	Inferred relationship	Some	1
Sacral hemivertebra	Associated morphology	True	Aplasia	Inferred relationship	Some	1
Anodontie	Associated morphology	False	Aplasia	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.	Associated morphology	True	Aplasia	Inferred relationship	Some	2
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.	Associated morphology	True	Aplasia	Inferred relationship	Some	2
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.	Associated morphology	False	Aplasia	Inferred relationship	Some	3
A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.	Associated morphology	True	Aplasia	Inferred relationship	Some	1
A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.	Associated morphology	True	Aplasia	Inferred relationship	Some	1
A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait.	Associated morphology	False	Aplasia	Inferred relationship	Some	1
Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.	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 (morphologic abnormality)	Is a	True	Aplasia	Inferred relationship	Some
Acephalostomia	Associated morphology	True	Aplasia	Inferred relationship	Some	1
Partial radial absence (disorder)	Associated morphology	True	Aplasia	Inferred relationship	Some	1
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	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

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