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
Hay-Wells syndrome of ectodermal dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Hyperlipidemia	Occurrence	False	Congenital	Inferred relationship	Some
Essentiel benign pentosuri	Occurrence	False	Congenital	Inferred relationship	Some
Athyrotic hypothyroidism sequence	Occurrence	False	Congenital	Inferred relationship	Some
Complete phocomelia of lower limb	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hyperplasia of kidney	Occurrence	False	Congenital	Inferred relationship	Some
Glycogen storage disease, type V	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary spherocytosis	Occurrence	False	Congenital	Inferred relationship	Some
Encephalocele	Occurrence	False	Congenital	Inferred relationship	Some
Klippel-Feil sequence	Occurrence	False	Congenital	Inferred relationship	Some
Congenital duplication of biliary duct	Occurrence	False	Congenital	Inferred relationship	Some
Xeroderma pigmentosum, group E	Occurrence	False	Congenital	Inferred relationship	Some
A type of pseudohypoparathyroidism with characteristics of localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs).	Occurrence	False	Congenital	Inferred relationship	Some
Pelvic kidney	Occurrence	False	Congenital	Inferred relationship	Some
Congenital syphilitic splenomegaly	Occurrence	False	Congenital	Inferred relationship	Some
Hemispheric cerebral agenesis	Occurrence	False	Congenital	Inferred relationship	Some
Bardet-Biedl syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Leydig cell agenesis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital subaortic stenosis of tunnel type	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit forkortet af arm	Occurrence	False	Congenital	Inferred relationship	Some
Fibrous hamartoma of infancy	Occurrence	False	Congenital	Inferred relationship	Some
Juvenile fucosidosis	Occurrence	False	Congenital	Inferred relationship	Some
Nasal glial heterotopia	Occurrence	False	Congenital	Inferred relationship	Some
Nevus lipomatosus cutaneous superficialis	Occurrence	False	Congenital	Inferred relationship	Some
Ulegyria	Occurrence	False	Congenital	Inferred relationship	Some
Inherited disorder of bilirubin metabolism	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypotrichia	Occurrence	False	Congenital	Inferred relationship	Some
Hypertyrosinemia	Occurrence	False	Congenital	Inferred relationship	Some
Cohen syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Blunderbuss pelvis	Occurrence	False	Congenital	Inferred relationship	Some
18p partial monosomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Intestinal enteropeptidase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Hunter's syndrome, mild form	Occurrence	True	Congenital	Inferred relationship	Some	1
Pallister-Hall syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of subcutaneous tissue	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hypertrichosis	Occurrence	False	Congenital	Inferred relationship	Some
Overriding fingers	Occurrence	False	Congenital	Inferred relationship	Some
Cervical thyroid remnant	Occurrence	False	Congenital	Inferred relationship	Some
Strawberry nevus of skin	Occurrence	False	Congenital	Inferred relationship	Some
Fistula colli congenita	Occurrence	False	Congenital	Inferred relationship	Some
Uterus bicornis unicollis	Occurrence	False	Congenital	Inferred relationship	Some
Microcystic renal disease	Occurrence	False	Congenital	Inferred relationship	Some
Hyperammonemia, type III	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of brain	Occurrence	False	Congenital	Inferred relationship	Some
Cholesterol ester storage disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniosynostosis syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital obstruction of large intestine	Occurrence	False	Congenital	Inferred relationship	Some
Anomaly of chromosome pair 5	Occurrence	False	Congenital	Inferred relationship	Some
Tyrosinosis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of external ear	Occurrence	False	Congenital	Inferred relationship	Some
Congenital tracheobronchomegaly	Occurrence	False	Congenital	Inferred relationship	Some
Kendt ELLER mistanke om føtal anencefali med indvirkning på obstetrisk behandling og pleje	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of spleen	Occurrence	False	Congenital	Inferred relationship	Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Multiple malformation syndrome due to non-infectious environmental agents	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of larynx	Occurrence	False	Congenital	Inferred relationship	Some
Hepatic methionine adenosyltransferase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Acid phosphatase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Seckel syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Janiceps	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of tibia and fibula	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hypergammaglobulinemia	Occurrence	True	Congenital	Inferred relationship	Some	1
Cowden syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Mannosidosis, type II	Occurrence	False	Congenital	Inferred relationship	Some
Congenital duplication of cervix	Occurrence	False	Congenital	Inferred relationship	Some
Dihydropteridine reductase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Infantile neuronal ceroid lipofuscinosis	Occurrence	True	Congenital	Inferred relationship	Some	2
Maroteaux-Lamy syndrome, severe form	Occurrence	True	Congenital	Inferred relationship	Some	1
Gingival odontogenic cyst	Occurrence	False	Congenital	Inferred relationship	Some
Variegate porphyria	Occurrence	False	Congenital	Inferred relationship	Some
Congenital syphilitic osteochondritis	Occurrence	False	Congenital	Inferred relationship	Some
erhvervet postural kyfose	Occurrence	False	Congenital	Inferred relationship	Some
Spinal cord dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida aperta	Occurrence	False	Congenital	Inferred relationship	Some	6
Hyperlysinemia	Occurrence	False	Congenital	Inferred relationship	Some
Diastrophic dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Cutis laxa	Occurrence	False	Congenital	Inferred relationship	Some
Leber's optic atrophy	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial disease with storage of sterols (other than cholesterol)	Occurrence	True	Congenital	Inferred relationship	Some	1
Accessory lacrimal gland disorder	Occurrence	False	Congenital	Inferred relationship	Some
Navlesnorsbrok	Occurrence	False	Congenital	Inferred relationship	Some
Reifensteins syndrom	Occurrence	False	Congenital	Inferred relationship	Some
A tooth which erupts after birth in the neonatal period.	Occurrence	False	Congenital	Inferred relationship	Some
Dobbelt ductus arteriosus	Occurrence	False	Congenital	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Occurrence	False	Congenital	Inferred relationship	Some
Congenital cystic eyeball	Occurrence	False	Congenital	Inferred relationship	Some
Dilated cardiomyopathy due to glycogen storage disease (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital aneurysm of anterior communicating artery	Occurrence	False	Congenital	Inferred relationship	Some
Anomaly of chromosome pair 18	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of female genital system	Occurrence	False	Congenital	Inferred relationship	Some
Congenital dislocation of knee	Occurrence	False	Congenital	Inferred relationship	Some
Partial aphalangia of lower limb	Occurrence	False	Congenital	Inferred relationship	Some
Klippel-Trénaunay-Webers syndrom	Occurrence	False	Congenital	Inferred relationship	Some
Congenital honeycomb lung	Occurrence	False	Congenital	Inferred relationship	Some
Menkes kinky-hair syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Familial porphyria cutanea tarda	Occurrence	False	Congenital	Inferred relationship	Some
A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.	Occurrence	False	Congenital	Inferred relationship	Some
Longitudinal deficiency of radius AND ulna	Occurrence	False	Congenital	Inferred relationship	Some
Congenital pigmentary anomaly of skin	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)