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418560003: Absence (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2573418018 Absence (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2576693013 Absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
8681000077116 absence fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

17 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Absence (morphologic abnormality) Is a Morphologically abnormal structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Left kidney absent (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Right kidney absent (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Fetal sirenomelia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
X-linked hypodontia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
X-linked oligodontia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of nose (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of cervix uteri (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of liver (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Developmental absence of tooth Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Anodontia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Anodontia of permanent dentition (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Anodontia of primary dentition Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Partial congenital absence of teeth Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Familial hypodontia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Hypodontia and nail dysgenesis Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
A rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
X-linked oligodontia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Traumatic enucleation of left eye (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Traumatic enucleation of right eye Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Complete edentulism class I Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Complete edentulism class II (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Complete edentulism class III (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Complete edentulism class IV Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Complete edentulism class I due to caries (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Complete edentulism class II due to caries (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Complete edentulism class III due to caries Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Complete edentulism class IV due to caries (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Complete edentulism class I due to periodontal disease (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Complete edentulism class II due to periodontal disease Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Complete edentulism class III due to periodontal disease (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Complete edentulism class IV due to periodontal disease (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Complete edentulism class I due to trauma (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Complete edentulism class II due to trauma (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Complete edentulism class III due to trauma Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Complete edentulism class IV due to trauma (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Agenesis of cervical vertebra Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Scarring alopecia due to lepromatous leprosy (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 4
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of cervical vertebra Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of right lower limb (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Alopecia areata of eyebrow (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired aphakia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Aphakia due to trauma (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Alopecia areata of eyelash Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of left lower leg and foot Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of left lower leg and foot Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of right lower leg and foot (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of right lower leg and foot (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Acquired anophthalmic socket with orbital implant Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 4
Acne keloidalis Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Single umbilical cord artery type II Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
Single umbilical cord artery type I (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
Single umbilical cord artery type III (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
Single umbilical cord artery type IV (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 4
A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Alopecia due to thyroid disorder Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Alopecia due to iron deficiency Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Scarring alopecia of scalp due to malignant neoplasm of skin (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Scarring alopecia due to and following radiotherapy (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Scarring alopecia due to infectious disease (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Gravid uterus absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Uterus absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Postmenopausal frontal fibrosing alopecia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 4
Left split foot Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Right split foot (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of right upper limb (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of left upper limb (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of right pectoral muscle Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of left pectoral muscle (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Right split hand (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Left split hand (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of bilateral pectoral muscles (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of bilateral pectoral muscles (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of bilateral upper limbs (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of bilateral upper limbs (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Aphakic bullous keratopathy of bilateral eyes (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aphakic bullous keratopathy of bilateral eyes (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Urinary bladder absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Single coronary artery Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Single coronary artery dividing into right coronary artery and left coronary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of soft palate Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2

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