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255399007: Congenital (qualifier value)

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

Descriptions:

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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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
Essential benign pentosuria 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
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by 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. 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
raccourcissement congénital d'un bras 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
bassin en tromblon 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 (disorder) 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
Known OR suspected fetal anencephaly affecting obstetrical care 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
Acquired postural kyphosis 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
exomphale congénitale Occurrence False Congenital Inferred relationship Some
Reifenstein syndrome Occurrence False Congenital Inferred relationship Some
A tooth which erupts after birth in the neonatal period. Occurrence False Congenital Inferred relationship Some
Double ductus arteriosus Occurrence False Congenital Inferred relationship Some
Pseudohypoparathyroidism type I A Occurrence False Congenital Inferred relationship Some
Congenital cystic eyeball (disorder) 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
angiodysplasie ostéodystrophique 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
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), 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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