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45486003: Aplasia (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
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

3 descendants. Search Descendants:

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
Hydranencephaly Associated morphology False Aplasia Inferred relationship Some 2
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Associated morphology True Aplasia Inferred relationship Some 3
An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. Associated morphology True Aplasia Inferred relationship Some 1
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. 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 is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. 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
A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems. Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of body of uterus Associated morphology True Aplasia Inferred relationship Some 1
Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion dependent. Associated morphology True Aplasia Inferred relationship Some 1
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. 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 (disorder) Associated morphology False Aplasia Inferred relationship Some 1
Ablepharon of bilateral eyelids (disorder) Associated morphology False Aplasia Inferred relationship Some 2
Congenital absence of seminal vesicle (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Transverse deficiency (morphologic abnormality) Is a True Aplasia Inferred relationship Some
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Associated morphology False Aplasia Inferred relationship Some 4
Autosomal recessive Robinow syndrome Associated morphology False Aplasia Inferred relationship Some 4
B cell lymphocyte aplasia caused by drug (disorder) 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 (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita (disorder) 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) (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita following intra-uterine infection (Type 8) (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis in Trisomy 13 syndrome (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis in Johanson-Blizzard syndrome (disorder) Associated morphology True Aplasia Inferred relationship Some 1
A rare disorder characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. Associated morphology True Aplasia Inferred relationship Some 1
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. Associated morphology True Aplasia Inferred relationship Some 2
A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital. Associated morphology True Aplasia Inferred relationship Some 2
SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. Associated morphology True Aplasia Inferred relationship Some 2
A rare skin disorder characterized by the co-occurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva. Associated morphology True Aplasia Inferred relationship Some 1
Aplasia cutis congenita of limb (disorder) Associated morphology True Aplasia Inferred relationship Some 2
Autosomal recessive aplasia cutis congenita of limb (disorder) Associated morphology True Aplasia Inferred relationship Some 2
Partial absence of septum pellucidum (disorder) 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
Aplasia of external auditory canal (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Fanconi anemia of complementation group C Associated morphology True Aplasia Inferred relationship Some 1
A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations. Associated morphology True Aplasia Inferred relationship Some 1
A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia. Associated morphology True Aplasia Inferred relationship Some 2
Aplasia of clavicle Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of bone structure of extremity Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of biceps brachii Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of bone of cranium (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of bone of lower limb Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of bone of sternum Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of breast (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of clitoris Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of bone of thorax Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of bone of hand Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of colon Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of bone of radius and/or ulna Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of bone of upper limb Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of bone of axial skeleton Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of carpal bone Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of bone of pelvis Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of bone of head and neck of femur Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of bone of head and neck of femur Associated morphology True Aplasia Inferred relationship Some 2
Aplasia of bone of sacrum Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of cervical vertebral column Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of distal phalanx of great toe Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of distal phalanx of second toe Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of distal phalanx of little finger Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of distal phalanx of hand Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of distal phalanx of thumb (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of distal phalanx of third toe Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of distal phalanx of index finger Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of distal phalanx of ring finger Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of distal phalanx of middle finger Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of distal phalanx of foot (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of distal phalanx of fifth toe Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of distal phalanx of fourth toe Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of fibula Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of head of femur Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of limb Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of femur Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of lateral condyle of humerus Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of first metacarpal bone Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of fourth metacarpal bone Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of fifth metacarpal bone Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of fallopian tube Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of eccrine gland Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of metacarpal bone Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of index finger Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of humerus Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of little finger Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of finger (disorder) Associated morphology True Aplasia Inferred relationship Some 1
Aplasia of maxilla Associated morphology True Aplasia Inferred relationship Some 1

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