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
Incomplete ossification of centrum of lumbar vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Incomplete ossification of centrum of sacral vertebra	Occurrence	False	Congenital	Inferred relationship	Some
manglende ossifikation af cokcygealhvirvelbue	Occurrence	False	Congenital	Inferred relationship	Some
Lack of ossification of arch of cervical vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Lack of ossification of arch of lumbar vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Lack of ossification of arch of sacral vertebra	Occurrence	False	Congenital	Inferred relationship	Some
manglende ossifikation af centrum i cokcygealhvirvels corpus vertebraee	Occurrence	False	Congenital	Inferred relationship	Some
Lack of ossification of centrum of cervical vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Lack of ossification of centrum of lumbar vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Lack of ossification of centrum of sacral vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Sacral hemivertebra	Occurrence	False	Congenital	Inferred relationship	Some
Supernumerary arch of cervical vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Supernumerary arch of lumbar vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Supernumerary arch of sacral vertebra	Occurrence	False	Congenital	Inferred relationship	Some
overtallig cokcygealhvirvel	Occurrence	False	Congenital	Inferred relationship	Some
Supernumerary centrum of cervical vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Supernumerary centrum of lumbar vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Supernumerary centrum of sacral vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Supernumerary cervical vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Supernumerary lumbar vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Supernumerary sacral vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Supernumerary thoracic vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Unilateralt bruskcentrum i halshvirvel	Occurrence	False	Congenital	Inferred relationship	Some
Unilateralt bruskcentrum i lændehvirvel	Occurrence	False	Congenital	Inferred relationship	Some
Unilateralt bruskcentrum i sakralhvirvel	Occurrence	False	Congenital	Inferred relationship	Some
Ankyloblepharon	Occurrence	False	Congenital	Inferred relationship	Some
Polycoria	Occurrence	False	Congenital	Inferred relationship	Some
Neuronal choristoma	Occurrence	False	Congenital	Inferred relationship	Some
Follicular ichthyosis	Occurrence	False	Congenital	Inferred relationship	Some
Drug-induced pseudoporphyria	Occurrence	False	Congenital	Inferred relationship	Some
Paving stone naevus	Occurrence	False	Congenital	Inferred relationship	Some
Pseudo-polycoria	Occurrence	False	Congenital	Inferred relationship	Some
Multiple self-healing epithelioma of Ferguson-Smith	Occurrence	False	Congenital	Inferred relationship	Some
Multiple angiomatous naevi of skin	Occurrence	False	Congenital	Inferred relationship	Some
B-K mole (nevus) syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Follicular atrophoderma and basal cell epitheliomata	Occurrence	False	Congenital	Inferred relationship	Some
Gorham's disease	Occurrence	False	Congenital	Inferred relationship	Some
Angiokeratoma circumscriptum	Occurrence	False	Congenital	Inferred relationship	Some
Buphthalmos with congenital lens dislocation	Occurrence	False	Congenital	Inferred relationship	Some
Multiple endocrine neoplasia, type 2b	Occurrence	False	Congenital	Inferred relationship	Some
Buphthalmos with megalocornea	Occurrence	False	Congenital	Inferred relationship	Some
Propionic acidemia	Occurrence	True	Congenital	Inferred relationship	Some	1
Gorlin syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Familial multiple polyposis syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Buphthalmos with congenital keratoglobus	Occurrence	False	Congenital	Inferred relationship	Some
Congenital malformation syndromes associated with short stature	Occurrence	False	Congenital	Inferred relationship	Some
Buphthalmos with other eye anomaly	Occurrence	False	Congenital	Inferred relationship	Some
Buphthalmos with other eye anomaly NOS	Occurrence	False	Congenital	Inferred relationship	Some
Buphthalmos NOS	Occurrence	False	Congenital	Inferred relationship	Some
kongenit misdannelsessyndrom associeret med kort statur, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
Erythrokeratoderma en cocardes	Occurrence	False	Congenital	Inferred relationship	Some
Buphthalmos	Occurrence	False	Congenital	Inferred relationship	Some
Congenital tracheal collapse (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
dermatosparaxis hos kvæg OG/ELLER får	Occurrence	False	Congenital	Inferred relationship	Some
Congenital pericardial defect (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Talipes equinovarus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Epidermolysis bullosa simplex, Ogna type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deformity of face (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Kutan asteni hos hunde OG/ELLER katte	Occurrence	False	Congenital	Inferred relationship	Some
Acetyl-CoA: acyltransferase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of face (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Patent urachus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Fistula of urachus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Citrullinemia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital pigmented melanocytic nevus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Rudimentær brystvorte	Occurrence	False	Congenital	Inferred relationship	Some
Bovine achondroplasia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital pigmented melanocytic nevus of skin (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
A rare genodermatosis disease with great phenotypic variation and most common characteristic of ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Caused by mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyzes the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol biosynthesis pathway. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol (8DHC) and 8(9)-cholestenol in the skin, plasma and other body tissues.	Occurrence	False	Congenital	Inferred relationship	Some
Juvenile fucosidosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
L - transposition of the great vessels (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Propionic acidemia, type I (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Facioscapulohumeral muscular dystrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Primær seboré	Occurrence	False	Congenital	Inferred relationship	Some
Propionic acidemia, type II (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
D - transposition of the great vessels (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Tetralogy of Fallot with absent pulmonary valve (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Adult fucosidosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Progeroid short stature with pigmented nevi (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Diffuse palmoplantar keratoderma of Thost-Unna (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Premature aging syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hamartoma (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Dybt hæmangiom i huden	Occurrence	False	Congenital	Inferred relationship	Some
Junctional epidermolysis bullosa (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Ectodermal dysplasia with tooth-nail-sweating defect (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital vascular disorder (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary benign intraepithelial dyskeratosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Mixed vascular malformation (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Acrokeratosis verruciformis of Darier disease (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital malformation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Cutaneous vascular malformation (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hamartoma of skin (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Acrokeratosis verruciformis of Hopf (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary diffuse palmoplantar keratoderma (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Junctional epidermolysis bullosa gravis of Herlitz (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital vascular malformation (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital sixth nerve palsy (disorder)	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)