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255399007: Congenital (qualifier value)


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
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
135131000052119 medfödd sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Odontotrichomelic syndrome Occurrence True Congenital Inferred relationship Some 4
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Occurrence False Congenital Inferred relationship Some 5
Tongue absent Occurrence False Congenital Inferred relationship Some 3
Ectodermal dysplasia with nail defect Occurrence True Congenital Inferred relationship Some 3
Anadidymus Occurrence False Congenital Inferred relationship Some 3
Kirman syndrome Occurrence False Congenital Inferred relationship Some 3
Ectodermal dysplasia with sweating defect Occurrence False Congenital Inferred relationship Some 3
Roselli-Gulienetti ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 3
Pachyonychia congenita syndrome Occurrence False Congenital Inferred relationship Some 4
Ectodermal dysplasia with tooth-nail defects Occurrence True Congenital Inferred relationship Some 3
Dysgenesis of the brainstem Occurrence False Congenital Inferred relationship Some 3
Flynn-Aird syndrome Occurrence True Congenital Inferred relationship Some 3
Ectodermal dysplasia with tooth-sweating defect Occurrence True Congenital Inferred relationship Some 3
laryngoonykokutant syndrom Occurrence False Congenital Inferred relationship Some 4
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Cranioectodermal dysplasia Occurrence True Congenital Inferred relationship Some 4
Dysgenesis of lacrimal punctum (disorder) Occurrence False Congenital Inferred relationship Some 3
kongenital ektodermal dysplasi av ansikte Occurrence False Congenital Inferred relationship Some 3
Greither type of ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth-nail defects Occurrence True Congenital Inferred relationship Some 3
Fried's tooth and nail syndrome Occurrence True Congenital Inferred relationship Some 3
Pachyonychia congenita type III of Schafer-Brunauer (disorder) Occurrence False Congenital Inferred relationship Some 4
Ectodermal dysplasia, syndactyly and pili torti Occurrence True Congenital Inferred relationship Some 3
Curly hair, ankyloblepharon, nail dysplasia syndrome Occurrence True Congenital Inferred relationship Some 3
Orofacial-digital syndrome IV Occurrence True Congenital Inferred relationship Some 1
Trichodental syndrome Occurrence True Congenital Inferred relationship Some 3
Dwarfism, alopecia, pseudoanodontia, cutis laxa Occurrence True Congenital Inferred relationship Some 3
Urachal sinus (disorder) Occurrence True Congenital Inferred relationship Some 2
Moynahans syndrom Occurrence False Congenital Inferred relationship Some 4
Odonto-onychial dysplasia with alopecia Occurrence True Congenital Inferred relationship Some 5
Olive dysplasia Occurrence False Congenital Inferred relationship Some 3
Malformation of urachus Occurrence False Congenital Inferred relationship Some 3
Curry-Hall syndrome Occurrence True Congenital Inferred relationship Some 3
kongenital hypodonti av flera tänder i samband med systemsjukdom Occurrence False Congenital Inferred relationship Some 1
kongenital hypodonti av flera tänder i samband med systemsjukdom Occurrence False Congenital Inferred relationship Some 2
Dermodental dysplasia Occurrence True Congenital Inferred relationship Some 3
Odontomicronychial ectodermal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 3
trifalangeala tummar med missbildning av nagel Occurrence False Congenital Inferred relationship Some 4
Ectodermal dysplasia with hair-tooth-nail-sweating defect Occurrence True Congenital Inferred relationship Some 3
Odonto-onycho-dermal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 3
Hidrotic ectodermal dysplasia syndrome Occurrence False Congenital Inferred relationship Some 3
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Hypohidrosis with neurolabyrinthitis Occurrence False Congenital Inferred relationship Some 4
Salamon's syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Aglossia-adactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Kohlschutter's syndrome Occurrence False Congenital Inferred relationship Some 1
Familial hypodontia Occurrence True Congenital Inferred relationship Some 1
Familial hypodontia Occurrence True Congenital Inferred relationship Some 2
Oral-facial-digital syndrome Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth defects Occurrence True Congenital Inferred relationship Some 3
Olivary heterotopia Occurrence False Congenital Inferred relationship Some 3
Pachyonychia congenita type II of Jackson-Lawler (disorder) Occurrence False Congenital Inferred relationship Some 4
Hypodontia and nail dysgenesis Occurrence True Congenital Inferred relationship Some 1
Hypodontia and nail dysgenesis Occurrence True Congenital Inferred relationship Some 2
Hypodontia and nail dysgenesis Occurrence False Congenital Inferred relationship Some 7
Hypohidrotic X-linked ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 3
Orofacial-digital syndrome III Occurrence True Congenital Inferred relationship Some 1
Urachal diverticulum (disorder) Occurrence False Congenital Inferred relationship Some 3
Hypohidrosis-diabetes insipidus syndrome Occurrence False Congenital Inferred relationship Some 4
Ectodermal dysplasia with hair-nail defect Occurrence True Congenital Inferred relationship Some 3
Sandman-Andra syndrome Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive dyskeratosis congenita Occurrence True Congenital Inferred relationship Some 1
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 3
Tricho-oculodermovertebral syndrome Occurrence True Congenital Inferred relationship Some 3
Autosomal dominant dyskeratosis congenita (disorder) Occurrence True Congenital Inferred relationship Some 1
Oculodentodigital syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Oculodento-osseous dysplasia - mild type Occurrence True Congenital Inferred relationship Some 2
kongenital hypodonti av flera tänder utan samband med systemsjukdom Occurrence False Congenital Inferred relationship Some 1
Schoepf-Schulz-Passage syndrome Occurrence True Congenital Inferred relationship Some 3
Tricho-onychodental dysplasia Occurrence True Congenital Inferred relationship Some 3
Partial congenital absence of teeth Occurrence True Congenital Inferred relationship Some 1
Partial congenital absence of teeth Occurrence True Congenital Inferred relationship Some 2
Convergent root proximity (disorder) Occurrence False Congenital Inferred relationship Some 1
Bifid mandibular condyle Occurrence True Congenital Inferred relationship Some 1
Odontohypophosphatasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of mandibular glenoid fossa Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 2
Persistent omphalomesenteric artery (disorder) Occurrence False Congenital Inferred relationship Some 2
Duplication of whole upper limb Occurrence False Congenital Inferred relationship Some 3
Congenital humeral varus Occurrence False Congenital Inferred relationship Some 3
Persistent cerebral embryonic artery Occurrence True Congenital Inferred relationship Some 1
Congenital macrognathism Occurrence False Congenital Inferred relationship Some 4
Duplication of upper limb Occurrence False Congenital Inferred relationship Some 3
Congenital abnormality of left atrioventricular valve in double inlet ventricle (disorder) Occurrence False Congenital Inferred relationship Some 2
Duplication of whole hand (disorder) Occurrence False Congenital Inferred relationship Some 3
Duplication of radius Occurrence False Congenital Inferred relationship Some 3
Persistence of primitive artery Occurrence False Congenital Inferred relationship Some 2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Occurrence False Congenital Inferred relationship Some 3
Klinefelter syndrome Occurrence True Congenital Inferred relationship Some 1
Megalourethra Occurrence False Congenital Inferred relationship Some 3
Duplication of humerus Occurrence False Congenital Inferred relationship Some 3
genetisk avvikelse i hårskaft Occurrence False Congenital Inferred relationship Some 3
Klinefelter's syndrome, XXY (disorder) Occurrence True Congenital Inferred relationship Some 2
Complete duplication of appendix Occurrence True Congenital Inferred relationship Some 1
Klinefelter's syndrome XXXY Occurrence True Congenital Inferred relationship Some 2
Klinefelter's syndrome XXXXY Occurrence True Congenital Inferred relationship Some 2
Congenital penoscrotal transposition Occurrence True Congenital Inferred relationship Some 1
Ulnar dimelia Occurrence True Congenital Inferred relationship Some 2
Genetic defect of hair shaft (disorder) Occurrence False Congenital Inferred relationship Some 3
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Occurrence False Congenital Inferred relationship Some 3
Klinefelter's syndrome, XXYY (disorder) Occurrence True Congenital Inferred relationship Some 2

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