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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
Absence of upper arm Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of sex chromosome Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of uvula Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Central centrifugal cicatricial alopecia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absent maxilla Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Absence of mandibular condyle (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of tibia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Anophthalmos Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 3
An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Loss of outer third of eyebrow Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia. Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 3
Absence of lower limb (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Vagina absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Scarring alopecia due to traumatic injury Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 4
A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterised by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 3
Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterised by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Loss of teeth Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class III due to periodontal disease (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Edentulous alveolar ridge Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism class IV due to trauma (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of female genital organ (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of male genital organ (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Loss of teeth due to extraction Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Complete edentulism due to trauma Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class II due to caries (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class IV due to periodontal disease (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism class IV due to periodontal disease (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class III due to trauma Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of multiple teeth Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism due to trauma (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Horizontal atrophy of edentulous alveolar ridge Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Loss of teeth due to an accident Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Acquired absence of single tooth Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism due to periodontal disease (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class I Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Knife-edged edentulous alveolar ridge Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class III due to caries Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Atrophy of edentulous mandibular alveolar ridge Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Partial edentulism class 1 Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism class IV due to caries Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Loss of teeth due to local periodontal disease Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Partial edentulism class III due to caries Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Loss of teeth due to attrition Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class I due to trauma (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Exfoliation of teeth due to systemic disease Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism class II due to trauma Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class IV Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism class 4 Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absent testis Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of entire limb (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of organ (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism due to periodontal disease (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of genital organ (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Atrophy of edentulous maxillary alveolar ridge Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Partial edentulism class 2 Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Bilateral acquired absence of ovary (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Bilateral acquired absence of ovary (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Partially edentulous maxilla (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Partial edentulism class II due to periodontal disease (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class I due to periodontal disease (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Partially edentulous mandible (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Complete edentulism class IV due to trauma (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism due to caries (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Generalized precocious exfoliation of teeth related to systemic disease Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
Acquired absence of fallopian tube Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism class II due to caries (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class II due to trauma (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class I due to caries (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Edentulous alveolar ridge with labial resorption (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Atrophy of edentulous alveolar ridge Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Partial edentulism class 3 Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Bilateral acquired absence of breast (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Bilateral acquired absence of breast (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Partial edentulism class I due to trauma Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class IV due to caries (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism due to caries Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism class III due to periodontal disease Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism class III due to trauma Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism class I due to caries (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of uterus (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class II due to periodontal disease Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of ovary (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class III (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Partial edentulism class I due to periodontal disease Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Complete edentulism class II (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of breast (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of cervix and uterus (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of cervix and uterus (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Loss of all teeth Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired total absence of breast (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired anophthalmos Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Monorchism Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Partially edentulous mandible (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Vitreous loss (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1

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