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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
2573418018 Absence (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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 Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Left kidney absent (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Right kidney absent (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Fetal sirenomelia Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked hypodontia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked oligodontia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acquired absence of nose Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acquired absence of cervix uteri (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absence of liver (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
absence de développement d'une dent Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anodontia Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anodontia of permanent dentition Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anodontia of primary dentition Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Partial congenital absence of teeth (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial hypodontia Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypodontia and nail dysgenesis Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Oligodontia and cancer predisposition syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 3
X-linked oligodontia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Traumatic enucleation of left eye (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Traumatic enucleation of right eye Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mayer Rokitansky Küster Hauser syndrome type 1 Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mayer Rokitansky Küster Hauser syndrome type 1 Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mayer Rokitansky Küster Hauser syndrome type 1 Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete edentulism class I Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete edentulism class II (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete edentulism class III (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete edentulism class IV (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete edentulism class I due to caries (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete edentulism class II due to caries (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete edentulism class III due to caries (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete edentulism class IV due to caries Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete edentulism class I due to periodontal disease (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete edentulism class II due to periodontal disease Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete edentulism class III due to periodontal disease (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete edentulism class IV due to periodontal disease (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete edentulism class I due to trauma (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete edentulism class II due to trauma (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete edentulism class III due to trauma Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete edentulism class IV due to trauma (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Agenesis of cervical vertebra Associated morphology False Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
MARCH syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Split-foot malformation, mesoaxial polydactyly syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Scarring alopecia due to lepromatous leprosy (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trichodermodysplasia and dental alterations syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of cervical vertebra Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of right lower limb Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Alopecia areata of eyebrow (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acquired absence of lens of eye (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 2
Aphakia due to trauma (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Alopecia areata of eyelash Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of left lower leg and foot (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of left lower leg and foot (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of right lower leg and foot (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of right lower leg and foot (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acquired anophthalmic socket with orbital implant Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 4
Acne keloidalis Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Single umbilical cord artery type II Associated morphology False Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Single umbilical cord artery type I (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Single umbilical cord artery type III (disorder) Associated morphology False Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Single umbilical cord artery type IV Associated morphology False Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 3
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Aprosencephaly cerebellar dysgenesis Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
NDE1-related microhydranencephaly Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Alopecia due to thyroid disorder Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Alopecia due to iron deficiency Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Scarring alopecia of scalp due to malignant neoplasm of skin Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Scarring alopecia due to and following radiotherapy (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Scarring alopecia due to infectious disease (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Gravid uterus absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Uterus absent Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Postmenopausal frontal fibrosing alopecia Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Left split foot Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Right split foot (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of right upper limb (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of left upper limb (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of right pectoral muscle Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of left pectoral muscle Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Right split hand Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Left split hand (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of bilateral pectoral muscles Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of bilateral pectoral muscles Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of bilateral upper limbs Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of bilateral upper limbs Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Aphakic bullous keratopathy of bilateral eyes (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aphakic bullous keratopathy of bilateral eyes (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Urinary bladder absent (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Single coronary artery Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Single coronary artery dividing into right coronary artery and left coronary artery (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 2
Congenital absence of soft palate Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mayer Rokitansky Küster Hauser syndrome (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mayer Rokitansky Küster Hauser syndrome (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2

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