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
Anonychia with bizarre flexural pigmentation	Occurrence	False	Congenital	Inferred relationship	Some
Tricho-onychodental dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail defects	Occurrence	False	Congenital	Inferred relationship	Some
Schoepf-Schulz-Passage syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Odonto-onychial dysplasia with alopecia	Occurrence	False	Congenital	Inferred relationship	Some
Fried's tooth and nail syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Hypodontia and nail dysgenesis	Occurrence	False	Congenital	Inferred relationship	Some
Dermodental dysplasi	Occurrence	False	Congenital	Inferred relationship	Some
Salamon's syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Ectodermal dysplasia, syndactyly and pili torti	Occurrence	False	Congenital	Inferred relationship	Some
Dwarfism, alopecia, pseudoanodontia, cutis laxa	Occurrence	False	Congenital	Inferred relationship	Some
Hypohidrosis-diabetes insipidus syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth defects	Occurrence	False	Congenital	Inferred relationship	Some
Odontotrichomelic syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Orofacial-digital syndrome III	Occurrence	False	Congenital	Inferred relationship	Some
Orofacial-digital syndrome IV	Occurrence	False	Congenital	Inferred relationship	Some
Berlin syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Ectodermal dysplasia with hair-nail defect	Occurrence	False	Congenital	Inferred relationship	Some
Tricho-oculodermovertebral syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Curly hair, ankyloblepharon, nail dysplasia syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Kirman syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Ectodermal dysplasia with tooth-nail defects	Occurrence	False	Congenital	Inferred relationship	Some
Dentookulokutant syndrom	Occurrence	False	Congenital	Inferred relationship	Some
Ectodermal dysplasia with tooth-sweating defect	Occurrence	False	Congenital	Inferred relationship	Some
Sandman-Andra syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Ectodermal dysplasia with nail defect	Occurrence	False	Congenital	Inferred relationship	Some
Trifalangeale tommelfingre med onykodystrofi	Occurrence	False	Congenital	Inferred relationship	Some
Ectodermal dysplasia with sweating defect	Occurrence	False	Congenital	Inferred relationship	Some
Hypohidrosis with neurolabyrinthitis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit ektodermal dysplasi af ansigtet	Occurrence	False	Congenital	Inferred relationship	Some
Multiple benign annular creases of extremities	Occurrence	False	Congenital	Inferred relationship	Some
Reticulate pigmented anomaly of flexures	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary clubbing	Occurrence	False	Congenital	Inferred relationship	Some
Flynn-Aird syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Cutaneous syndrome with ichthyosis	Occurrence	False	Congenital	Inferred relationship	Some
A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported.	Occurrence	False	Congenital	Inferred relationship	Some
Atypical ichthyosis vulgaris with hypogonadism	Occurrence	False	Congenital	Inferred relationship	Some
Keratosis pilaris med iktyose og døvhed	Occurrence	False	Congenital	Inferred relationship	Some	3
Erythrokeratoderma progressiva of Gottron (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Keratolytic winter erythema	Occurrence	False	Congenital	Inferred relationship	Some
Keratolysis exfoliativa	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary palmoplantar keratoderma	Occurrence	False	Congenital	Inferred relationship	Some
Palmoplantar keratoderma transgrediens	Occurrence	False	Congenital	Inferred relationship	Some
Acroerythrokeratoderma	Occurrence	False	Congenital	Inferred relationship	Some
Progressive palmoplantar keratoderma of Greither	Occurrence	False	Congenital	Inferred relationship	Some
Epidermolytic palmoplantar keratoderma of Vorner	Occurrence	False	Congenital	Inferred relationship	Some
A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.	Occurrence	False	Congenital	Inferred relationship	Some
Circumscribed palmoplantar keratoderma	Occurrence	False	Congenital	Inferred relationship	Some
Keratoderma med kongenit pakyonyki	Occurrence	False	Congenital	Inferred relationship	Some
Palmoplantar keratoderma with leukoplakia	Occurrence	False	Congenital	Inferred relationship	Some
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Keratoderma med mental retardering og spastisk paraplegi	Occurrence	False	Congenital	Inferred relationship	Some
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf	Occurrence	False	Congenital	Inferred relationship	Some
Inherited cutaneous hyperpigmentation	Occurrence	False	Congenital	Inferred relationship	Some
Normal variation in cutaneous pigmentation	Occurrence	False	Congenital	Inferred relationship	Some
Dyschromatosis universalis	Occurrence	False	Congenital	Inferred relationship	Some
Naegeli-Franceschetti-Jadassohn syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Symmetrical dyschromatosis of extremities	Occurrence	False	Congenital	Inferred relationship	Some
Zosteriform reticulate hyperpigmentation	Occurrence	False	Congenital	Inferred relationship	Some
Cantu's syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Dermatopathia pigmentosa reticularis	Occurrence	False	Congenital	Inferred relationship	Some
Acromelanosis	Occurrence	False	Congenital	Inferred relationship	Some
Malformation or hamartoma of skin appendage	Occurrence	False	Congenital	Inferred relationship	Some
Malformation or hamartoma of eccrine sweat gland apparatus	Occurrence	False	Congenital	Inferred relationship	Some
Eccrine angiomatous hamartoma	Occurrence	False	Congenital	Inferred relationship	Some
Eccrine naevus	Occurrence	False	Congenital	Inferred relationship	Some
Acrosyringeal nevus	Occurrence	False	Congenital	Inferred relationship	Some
Porokeratotic eccrine ostial and dermal duct naevus	Occurrence	False	Congenital	Inferred relationship	Some
Malformation or hamartoma of apocrine sweat gland apparatus	Occurrence	False	Congenital	Inferred relationship	Some
Apocrine naevus	Occurrence	False	Congenital	Inferred relationship	Some
Syringocystadenoma papilliferum	Occurrence	False	Congenital	Inferred relationship	Some
Malformation or hamartoma of pilosebaceous apparatus	Occurrence	False	Congenital	Inferred relationship	Some
Straight hair naevus	Occurrence	False	Congenital	Inferred relationship	Some
Woolly hair naevus	Occurrence	False	Congenital	Inferred relationship	Some
Hairy malformation of palms and soles (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Hair follicle naevus	Occurrence	False	Congenital	Inferred relationship	Some
Moniliform hamartoma	Occurrence	False	Congenital	Inferred relationship	Some
Circumscribed storiform collagenoma	Occurrence	False	Congenital	Inferred relationship	Some
Eruptivt kollagenom	Occurrence	False	Congenital	Inferred relationship	Some
Familial cutaneous collagenoma	Occurrence	False	Congenital	Inferred relationship	Some
Naevus elasticus	Occurrence	False	Congenital	Inferred relationship	Some
Naevus anelasticus	Occurrence	False	Congenital	Inferred relationship	Some
Michelin-tyre baby	Occurrence	False	Congenital	Inferred relationship	Some
Congenital erector pili hamartoma	Occurrence	False	Congenital	Inferred relationship	Some
Diffuse smooth muscle hamartoma	Occurrence	False	Congenital	Inferred relationship	Some
Rhabdomyomatous mesenchymal hamartoma	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of skin on scalp	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital absence of skin on scalp with epidermal naevi	Occurrence	False	Congenital	Inferred relationship	Some
Secondary gout	Occurrence	False	Congenital	Inferred relationship	Some
Gout secondary to renal impairment	Occurrence	False	Congenital	Inferred relationship	Some
Gout secondary to drug	Occurrence	False	Congenital	Inferred relationship	Some
Gout caused by lead (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Gout secondary to enzyme defect	Occurrence	False	Congenital	Inferred relationship	Some
Gouty bursitis	Occurrence	False	Congenital	Inferred relationship	Some
primært Sjögrens syndrom med involvering af flere organer/systemer	Occurrence	False	Congenital	Inferred relationship	Some
primært Sjögrens syndrom med multisysteminvolvering	Occurrence	False	Congenital	Inferred relationship	Some
sekundært Sjögrens syndrom med involvering af flere organer/systemer	Occurrence	False	Congenital	Inferred relationship	Some
sekundært Sjögrens syndrom med multisysteminvolvering	Occurrence	False	Congenital	Inferred relationship	Some
Lipid storage myopathy	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital myotonic dystrophy	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)