FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
Congenital pigmentary anomaly of skin Occurrence False Congenital Inferred relationship Some
Cutis laxa, x-linked Occurrence False Congenital Inferred relationship Some
Congenital atresia of nasopharynx Occurrence False Congenital Inferred relationship Some
Cutis laxa, autosomal recessive Occurrence False Congenital Inferred relationship Some
Congenital septal defect of heart Occurrence False Congenital Inferred relationship Some
Congenital absence of large intestine Occurrence False Congenital Inferred relationship Some
Congenital cytomegalovirus infection Occurrence False Congenital Inferred relationship Some
Tryptophan malabsorption syndrome Occurrence False Congenital Inferred relationship Some
Congenital dyserythropoietic anemia, type I Occurrence True Congenital Inferred relationship Some 5
Holoacardius acormus Occurrence False Congenital Inferred relationship Some
Persistent omphalomesenteric artery Occurrence False Congenital Inferred relationship Some
Subacute neuronopathic Gaucher's disease Occurrence True Congenital Inferred relationship Some 1
Anomalous pulmonary venous drainage Occurrence False Congenital Inferred relationship Some
Pelizaeus-Merzbacher disease, connatal variant Occurrence False Congenital Inferred relationship Some 4
HNSHA due to phosphoglycerate kinase deficiency Occurrence False Congenital Inferred relationship Some
Hyperprolinemia Occurrence False Congenital Inferred relationship Some
Congenital fusion of sacroiliac joint Occurrence False Congenital Inferred relationship Some
Manus plana Occurrence False Congenital Inferred relationship Some
Multiple epiphyseal dysplasia Occurrence False Congenital Inferred relationship Some
Congenital syphilitic pemphigus Occurrence False Congenital Inferred relationship Some
Trifid pelvis of kidney Occurrence False Congenital Inferred relationship Some
Glutamate formiminotransferase deficiency Occurrence True Congenital Inferred relationship Some 1
Hyperphosphatasemia tarda Occurrence False Congenital Inferred relationship Some
Thoracopagus Occurrence False Congenital Inferred relationship Some
Giant kidney Occurrence False Congenital Inferred relationship Some
Short cord Occurrence False Congenital Inferred relationship Some
2q partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Branchial cleft cyst Occurrence False Congenital Inferred relationship Some
Congenital anomaly of aorta Occurrence False Congenital Inferred relationship Some
Congenital absence of penis Occurrence False Congenital Inferred relationship Some
Mucopolysaccharidosis, MPS-III-B Occurrence True Congenital Inferred relationship Some 1
10p partial monosomy syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Moderate steroid 21-hydroxylase deficiency Occurrence False Congenital Inferred relationship Some
Congenital stricture of artery Occurrence False Congenital Inferred relationship Some
Common arterial trunk and separate origin of pulmonary arteries (disorder) Occurrence False Congenital Inferred relationship Some
Congenital dislocation of one hip with subluxation of other Occurrence False Congenital Inferred relationship Some
Lethal multiple pterygium syndrome Occurrence False Congenital Inferred relationship Some
Familial hypobetalipoproteinemia Occurrence True Congenital Inferred relationship Some 1
Stunted embryo Occurrence False Congenital Inferred relationship Some
Partial congenital absence of limb Occurrence False Congenital Inferred relationship Some
Cleft leaflet of tricuspid valve Occurrence False Congenital Inferred relationship Some
Congenital absence of clitoris (disorder) Occurrence False Congenital Inferred relationship Some
Duane's syndrome Occurrence False Congenital Inferred relationship Some
Dermatofibrosis lenticularis disseminata Occurrence False Congenital Inferred relationship Some
Congenital anomaly of tongue Occurrence False Congenital Inferred relationship Some
Congenital anomaly of limb Occurrence False Congenital Inferred relationship Some
Increased superior-inferior overlap of the maxillary central incisors over the mandibular central incisors relative to the incisal ridges. Occurrence False Congenital Inferred relationship Some
Congenital viral hepatitis B infection Occurrence False Congenital Inferred relationship Some
Megaloblastic anemia due to congenital deficiency of intrinsic factor Occurrence True Congenital Inferred relationship Some 3
Congenital anomaly of optic disc Occurrence False Congenital Inferred relationship Some
Dilated cardiomyopathy due to familial storage disease (disorder) Occurrence False Congenital Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex Occurrence False Congenital Inferred relationship Some
Maternal PKU fetal effect Occurrence False Congenital Inferred relationship Some
Congenital anomaly of adrenal gland Occurrence False Congenital Inferred relationship Some
An autosomal anomaly with characteristics of variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies and variable genital, limb and skeletal anomalies. Occurrence False Congenital Inferred relationship Some
Congenital cyst of mediastinum Occurrence False Congenital Inferred relationship Some
Duplication of duodenum Occurrence False Congenital Inferred relationship Some
Compound monster Occurrence False Congenital Inferred relationship Some
Congenital anomaly of stomach Occurrence False Congenital Inferred relationship Some
Atrial septal defect with endocardial cushion defect, partial type Occurrence False Congenital Inferred relationship Some
Purine-nucleoside phosphorylase deficiency Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease, hepatic form Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of aortic arch Occurrence False Congenital Inferred relationship Some
Hemolytic anemia with emphysema AND cutis laxa Occurrence False Congenital Inferred relationship Some
Gardner syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 11 Occurrence False Congenital Inferred relationship Some
Heterologous chimera Occurrence False Congenital Inferred relationship Some
Congenital ptosis of upper eyelid Occurrence False Congenital Inferred relationship Some
Urocanate hydratase deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital esophagotracheal fistula Occurrence False Congenital Inferred relationship Some
Epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
Proline dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Ectopic intestinal mucosa Occurrence False Congenital Inferred relationship Some
Congenital vascular disease Occurrence False Congenital Inferred relationship Some
Microphthalmos Occurrence False Congenital Inferred relationship Some
Tetanus omphalitis Occurrence False Congenital Inferred relationship Some
Erythropoietic coproporphyria Occurrence False Congenital Inferred relationship Some
Infantile fucosidosis Occurrence False Congenital Inferred relationship Some
Atresia of foramen of Luschka Occurrence False Congenital Inferred relationship Some
Congenital deformity of knee joint Occurrence False Congenital Inferred relationship Some
Fragile X syndrome Occurrence False Congenital Inferred relationship Some
Hypocholesterolemia Occurrence False Congenital Inferred relationship Some
Jarcho-Levin syndrome Occurrence False Congenital Inferred relationship Some
Embryonic cyst of vagina (disorder) Occurrence False Congenital Inferred relationship Some
Glycogenosis with glucoaminophosphaturia Occurrence False Congenital Inferred relationship Some
Congenital oculocutaneous hypopigmentation Occurrence False Congenital Inferred relationship Some
Juvenile neuronal ceroid lipofuscinosis Occurrence True Congenital Inferred relationship Some 3
Turcot syndrome Occurrence False Congenital Inferred relationship Some
Exstrophy of urinary bladder sequence Occurrence False Congenital Inferred relationship Some
Muscle phosphoglycerate mutase deficiency Occurrence True Congenital Inferred relationship Some 1
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Occurrence True Congenital Inferred relationship Some 3
Ask-Upmark kidney Occurrence False Congenital Inferred relationship Some
Porphyria cutanea tarda Occurrence False Congenital Inferred relationship Some
Homologous chimera Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of radius Occurrence False Congenital Inferred relationship Some
Common truncus arteriosus (disorder) Occurrence False Congenital Inferred relationship Some
Adult neuronal ceroid lipofuscinosis Occurrence False Congenital Inferred relationship Some 4
Arterial anomaly of umbilical cord Occurrence False Congenital Inferred relationship Some
Splenogonadal fusion Occurrence False Congenital Inferred relationship Some
Congenital hourglass stomach Occurrence False Congenital Inferred relationship Some
Hypoplastic left heart syndrome Occurrence False Congenital Inferred relationship Some

Start Previous Page 40 of 344 Next End

This concept is not in any reference sets

Back to Start