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
Kongenitte adhærencer	Occurrence	False	Congenital	Inferred relationship	Some
Kerasin thesaurismosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal muscular dystrophy with juvenile onset	Occurrence	False	Congenital	Inferred relationship	Some
akrocefalopolysyndaktyli	Occurrence	False	Congenital	Inferred relationship	Some
Congenital iodine deficiency syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Supernumerary permanent tooth	Occurrence	False	Congenital	Inferred relationship	Some
Overtallig tand identificerbar vha. tandnummer	Occurrence	False	Congenital	Inferred relationship	Some
Overtallig tand ikke-identificerbar vha. tandnummer	Occurrence	False	Congenital	Inferred relationship	Some
Erupted mesiodens	Occurrence	False	Congenital	Inferred relationship	Some
Inverted mesiodens	Occurrence	False	Congenital	Inferred relationship	Some
Multiple overtallige tænder uden relation til systemisk tilstand	Occurrence	False	Congenital	Inferred relationship	Some
Multiple supernumerary teeth related to systemic condition	Occurrence	False	Congenital	Inferred relationship	Some
Spongiform encephalopathy	Occurrence	False	Congenital	Inferred relationship	Some
Ear pit syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Lymphatic malformation	Occurrence	False	Congenital	Inferred relationship	Some
Conical supernumerary tooth	Occurrence	False	Congenital	Inferred relationship	Some
Tuberculate supernumerary tooth	Occurrence	False	Congenital	Inferred relationship	Some
læbefordybninger	Occurrence	False	Congenital	Inferred relationship	Some
Kommissurale læbefordybninger	Occurrence	False	Congenital	Inferred relationship	Some
Midline sinus of the upper lip	Occurrence	False	Congenital	Inferred relationship	Some
Hypothyroidism due to iodide organification defect	Occurrence	False	Congenital	Inferred relationship	Some
Thyroid hormone resistance syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Generalized thyroid hormone resistance	Occurrence	False	Congenital	Inferred relationship	Some
Generalised essential telangiectasia	Occurrence	False	Congenital	Inferred relationship	Some
Simple lymphangioma	Occurrence	False	Congenital	Inferred relationship	Some
Lymphangioma circumscriptum	Occurrence	False	Congenital	Inferred relationship	Some
Diffuse lymphangioma	Occurrence	False	Congenital	Inferred relationship	Some
lymfektasier	Occurrence	False	Congenital	Inferred relationship	Some
Systemic lymphangiomatosis	Occurrence	False	Congenital	Inferred relationship	Some
Acquired lymphangioma	Occurrence	False	Congenital	Inferred relationship	Some
Acantholytic dyskeratotic epidermal naevus	Occurrence	False	Congenital	Inferred relationship	Some
Nevus striatus symmetricus of thumbs	Occurrence	False	Congenital	Inferred relationship	Some
Epidermal naevus syndrome	Occurrence	False	Congenital	Inferred relationship	Some
cyste i den genitoperineale rafe	Occurrence	False	Congenital	Inferred relationship	Some
Lumpy scalp-syndrom	Occurrence	False	Congenital	Inferred relationship	Some
X-linked muscular dystrophy with limb girdle distribution	Occurrence	False	Congenital	Inferred relationship	Some
X-linked muscular dystrophy with abnormal dystrophin	Occurrence	False	Congenital	Inferred relationship	Some
Intermediate X-linked muscular dystrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Manifesting female carrier of X-linked muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
X-linked limb girdle muscular dystrophy with normal dystrophin	Occurrence	False	Congenital	Inferred relationship	Some
Jis muskeldystrofi	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary myopathy limited to females	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Occurrence	False	Congenital	Inferred relationship	Some
Alvorlig autosomal recessiv muskeldystrofi i barnealderen – nordafrikansk type	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal recessiv muskeldystrofi forårsaget af gen med locus på kromosom 15q	Occurrence	False	Congenital	Inferred relationship	Some
Reunion-Indiana Amish type muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit muskeldystrofi	Occurrence	False	Congenital	Inferred relationship	Some
Western type of congenital muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Occurrence	False	Congenital	Inferred relationship	Some
Ullrich congenital muscular dystrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Eichsfeld type congenital muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Hutterite type of muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal dominant muscular dystrophy with limb girdle distribution (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal dominant muscular dystrophy with gene located at 5q31	Occurrence	False	Congenital	Inferred relationship	Some
Late onset proximal muscular dystrophy with dysarthria	Occurrence	False	Congenital	Inferred relationship	Some
X-linked muscular dystrophy not predominantly limb girdle	Occurrence	False	Congenital	Inferred relationship	Some
Benign skapuloperoneal muskeldystrofi med kardiomyopati	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal recessive muscular dystrophy not predominantly limb girdle	Occurrence	False	Congenital	Inferred relationship	Some
Scapulohumeral muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal dominant muscular dystrophy not predominantly limb girdle	Occurrence	False	Congenital	Inferred relationship	Some
Benign scapuloperoneal muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Benign congenital muscular dystrophy with finger flexion contractures (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Distal muskeldystrofi med debut i voksenalder	Occurrence	False	Congenital	Inferred relationship	Some
Benign congenital hypotonia	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal recessive centronuclear myopathy	Occurrence	False	Congenital	Inferred relationship	Some
Myopathy with abnormality of histochemical fibre type	Occurrence	False	Congenital	Inferred relationship	Some
Myopathy with type I hypotrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.	Occurrence	False	Congenital	Inferred relationship	Some
Congenital myopathy with uniform fiber type	Occurrence	False	Congenital	Inferred relationship	Some
Myopathy with cytoplasmic inclusions	Occurrence	False	Congenital	Inferred relationship	Some
Myopathy with tubular aggregates	Occurrence	False	Congenital	Inferred relationship	Some
Hereditær myositis ossificans	Occurrence	False	Congenital	Inferred relationship	Some
Congenital parvoviral infection	Occurrence	False	Congenital	Inferred relationship	Some
Congenital Lyme disease	Occurrence	False	Congenital	Inferred relationship	Some
Neurologisk form af kretinisme	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Fukuyama congenital muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Merosin deficient congenital muscular dystrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Distal muscular dystrophy, Miyoshi type	Occurrence	False	Congenital	Inferred relationship	Some
Becker muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Emery-Dreifuss muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Refetoff syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital vascular naevus	Occurrence	False	Congenital	Inferred relationship	Some
Reticulate vascular nevus	Occurrence	False	Congenital	Inferred relationship	Some
Nevus sanguineous	Occurrence	False	Congenital	Inferred relationship	Some
Mixed haemangioma	Occurrence	False	Congenital	Inferred relationship	Some
Salmon patch naevus	Occurrence	False	Congenital	Inferred relationship	Some
Blue rubber bleb naevus	Occurrence	False	Congenital	Inferred relationship	Some
Verrucous hemangioma of skin	Occurrence	False	Congenital	Inferred relationship	Some
Cavernous lymphangioma of skin	Occurrence	False	Congenital	Inferred relationship	Some
Congenital lymphangioma	Occurrence	False	Congenital	Inferred relationship	Some
Acquired renal arteriovenous fistula	Occurrence	False	Congenital	Inferred relationship	Some
De Vaal's syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Fistula of lip	Occurrence	False	Congenital	Inferred relationship	Some
Pituitary thyroid hormone resistance	Occurrence	False	Congenital	Inferred relationship	Some
Thyrotoxicosis due to pituitary thyroid hormone resistance	Occurrence	False	Congenital	Inferred relationship	Some
Myotubular myopathy with type I atrophy	Occurrence	False	Congenital	Inferred relationship	Some
A supernumerary tooth located near the midline of the dental arch between two central incisors.	Occurrence	False	Congenital	Inferred relationship	Some
Iodotyrosine deiodination defect	Occurrence	False	Congenital	Inferred relationship	Some
Prion disease	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)