255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital	Is a	Periods of life	false	Inferred relationship	Some
Congenital	Is a	Fetal and/or neonatal period	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Carpal-tarsal osteolysis with nephropathy	Occurrence	False	Congenital	Inferred relationship	Some
Winchester syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Torg type osteolysis	Occurrence	False	Congenital	Inferred relationship	Some
Familial expansile osteolysis	Occurrence	False	Congenital	Inferred relationship	Some
Ichthyosis vulgaris	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal dominant ichthyosis vulgaris	Occurrence	False	Congenital	Inferred relationship	Some
Severe ichthyoses	Occurrence	False	Congenital	Inferred relationship	Some
Erythrodermic lamellar ichthyosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Non-erythrodermic lamellar ichthyosis	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal dominant lamellar ichthyosis	Occurrence	False	Congenital	Inferred relationship	Some
ikke-bulløs iktyosiform erytrodermi	Occurrence	False	Congenital	Inferred relationship	Some
Bulløs iktyose	Occurrence	False	Congenital	Inferred relationship	Some
Bullous ichthyosiform erythroderma	Occurrence	False	Congenital	Inferred relationship	Some
Localised bullous ichthyosiform erythroderma	Occurrence	False	Congenital	Inferred relationship	Some
Ichthyosis bullosa of Siemens	Occurrence	False	Congenital	Inferred relationship	Some
A rare type of keratinopathic ichthyosis characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey colour, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organisation of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus. Transmission is autosomal dominant but some sporadic cases have been reported.	Occurrence	False	Congenital	Inferred relationship	Some
Ichthyosis hystrix Bäfverstedt type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Ichthyosis hystrix gravior, Rheydts type	Occurrence	False	Congenital	Inferred relationship	Some
Ichthyosis hystrix med døvhed	Occurrence	False	Congenital	Inferred relationship	Some
Pindsvinemenneske	Occurrence	False	Congenital	Inferred relationship	Some
Epidermolysis bullosa simplex with hypodontia	Occurrence	False	Congenital	Inferred relationship	Some
Epidermolysis bullosa simplex herpetiformis	Occurrence	False	Congenital	Inferred relationship	Some
Epidermolysis bullosa simplex with mottled pigmentation	Occurrence	False	Congenital	Inferred relationship	Some
Epidermolysis simplex superficialis	Occurrence	False	Congenital	Inferred relationship	Some
Ukompliceret bulløs epidermolyse med neuromuskulær sygdom	Occurrence	False	Congenital	Inferred relationship	Some
Lethal autosomal recessive epidermolysis bullosa simplex	Occurrence	False	Congenital	Inferred relationship	Some
Dystrophic epidermolysis bullosa	Occurrence	False	Congenital	Inferred relationship	Some
Localised dystrophic epidermolysis bullosa	Occurrence	False	Congenital	Inferred relationship	Some
Localised recessive dystrophic epidermolysis bullosa	Occurrence	False	Congenital	Inferred relationship	Some
Generalized dystrophic epidermolysis bullosa	Occurrence	False	Congenital	Inferred relationship	Some
Generalized recessive dystrophic epidermolysis bullosa mitis	Occurrence	False	Congenital	Inferred relationship	Some
Transient neonatal bullous dermatosis	Occurrence	False	Congenital	Inferred relationship	Some
Localised junctional epidermolysis bullosa	Occurrence	False	Congenital	Inferred relationship	Some
Inverse junctional epidermolysis bullosa	Occurrence	False	Congenital	Inferred relationship	Some
Progressive junctional epidermolysis bullosa (neurotrophic)	Occurrence	False	Congenital	Inferred relationship	Some
Generalized junctional epidermolysis bullosa	Occurrence	False	Congenital	Inferred relationship	Some
Junctional epidermolysis bullosa mitis	Occurrence	False	Congenital	Inferred relationship	Some
Cicatricial junctional epidermolysis bullosa	Occurrence	False	Congenital	Inferred relationship	Some
De Sanctis-Cacchione syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Nevus of Ota	Occurrence	False	Congenital	Inferred relationship	Some
Inherited disorder of keratinization	Occurrence	False	Congenital	Inferred relationship	Some
Erythrokeratoderma	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary erythrokeratolysis	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary follicular keratoses	Occurrence	False	Congenital	Inferred relationship	Some
Familial dyskeratotic comedones	Occurrence	False	Congenital	Inferred relationship	Some
Inherited cutis laxa	Occurrence	False	Congenital	Inferred relationship	Some
Neonatal cutis laxa with marfanoid phenotype (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Cutis laxa, recessive, type I	Occurrence	False	Congenital	Inferred relationship	Some
Cutis laxa, recessive, type II	Occurrence	False	Congenital	Inferred relationship	Some
Congenital alopecia with keratin cysts	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypotrichosis with keratosis pilaris and lentiginosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Kongenitte morfologiske hårforstyrrelser	Occurrence	False	Congenital	Inferred relationship	Some
Uncombable hair syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital woolly hair	Occurrence	False	Congenital	Inferred relationship	Some
Congenital ringed hair	Occurrence	False	Congenital	Inferred relationship	Some
Marie Unna syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital enlarged nails	Occurrence	False	Congenital	Inferred relationship	Some
Aplasia of skin	Occurrence	False	Congenital	Inferred relationship	Some
Familiær fokal faciodermal dysplasi	Occurrence	False	Congenital	Inferred relationship	Some
Congenital retraction of nipple	Occurrence	False	Congenital	Inferred relationship	Some
Neurofibromatose, type 3	Occurrence	False	Congenital	Inferred relationship	Some
Ash leaf spot, tuberous sclerosis	Occurrence	False	Congenital	Inferred relationship	Some
Shagreen patch	Occurrence	False	Congenital	Inferred relationship	Some
Congenital malformation caused by cytotoxic agents (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Fetal benzodiazepine syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Føtalt captopril-/enalaprilsyndrom	Occurrence	False	Congenital	Inferred relationship	Some
Fetal carbamazepine syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Fetal cocaine syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Fetal minoxidil syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Fetal misoprostol syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Fetal primidone syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Fetal toluene syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital malformation of anterior pituitary	Occurrence	False	Congenital	Inferred relationship	Some
Congenital malformation of posterior pituitary	Occurrence	False	Congenital	Inferred relationship	Some
Syncephalus	Occurrence	False	Congenital	Inferred relationship	Some
Unbalanced translocation and insertion	Occurrence	False	Congenital	Inferred relationship	Some
Partial trisomy 21 in Down's syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Partial trisomy 18 in Edward's syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Partial trisomy 13 in Patau's syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Whole chromosome trisomy meiotic nondisjunction (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Whole chromosome trisomy - mitotic nondisjunction mosaicism	Occurrence	False	Congenital	Inferred relationship	Some
Triploidy and polyploidy	Occurrence	False	Congenital	Inferred relationship	Some
Deletion of part of autosome	Occurrence	False	Congenital	Inferred relationship	Some
Balanced rearrangement and structural marker	Occurrence	False	Congenital	Inferred relationship	Some
Balanced translocation and insertion in normal individual	Occurrence	False	Congenital	Inferred relationship	Some
Sex chromosome abnormality - female phenotype	Occurrence	False	Congenital	Inferred relationship	Some
Turner's phenotype - ring chromosome karyotype	Occurrence	False	Congenital	Inferred relationship	Some
Female with more than three X chromosomes	Occurrence	False	Congenital	Inferred relationship	Some
Mosaicism - lines with various numbers of X chromosomes (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Sex chromosome abnormality - male phenotype	Occurrence	False	Congenital	Inferred relationship	Some
Male with structurally abnormal sex chromosome	Occurrence	False	Congenital	Inferred relationship	Some
Male with sex chromosome mosaicism	Occurrence	False	Congenital	Inferred relationship	Some
FRAXA-syndrom	Occurrence	False	Congenital	Inferred relationship	Some
FRAXE	Occurrence	False	Congenital	Inferred relationship	Some
Peripheral congenital aneurysm	Occurrence	False	Congenital	Inferred relationship	Some
Basal cell nevus with comedones	Occurrence	False	Congenital	Inferred relationship	Some
Cobb's syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Bregeat's syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital livedo reticularis	Occurrence	False	Congenital	Inferred relationship	Some
Multiple progressive haemangiomata	Occurrence	False	Congenital	Inferred relationship	Some
Unilateralt segmentært kavernøst hæmangiom	Occurrence	False	Congenital	Inferred relationship	Some

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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
2235951000005117	kongenit	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)