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
Salla disease Occurrence False Congenital Inferred relationship Some
Congenital urethrorectal fistula Occurrence False Congenital Inferred relationship Some
Congenital cystic lung Occurrence False Congenital Inferred relationship Some
Congenital subaortic stenosis due to fibromuscular shelf (disorder) Occurrence False Congenital Inferred relationship Some
Congenital absence of appendix Occurrence False Congenital Inferred relationship Some
Hyperplasia of islet alpha cells with glucagon excess Occurrence False Congenital Inferred relationship Some
Persistent convolutions of aortic arch Occurrence False Congenital Inferred relationship Some
Congenital anomaly of head Occurrence False Congenital Inferred relationship Some
Supernumerary vertebra Occurrence False Congenital Inferred relationship Some
Monorchism Occurrence False Congenital Inferred relationship Some
Congenital syphilis with gumma Occurrence False Congenital Inferred relationship Some
Congenital absence of vagina Occurrence False Congenital Inferred relationship Some
Congenital fistula of salivary gland Occurrence False Congenital Inferred relationship Some
Acquired equinovarus deformity Occurrence False Congenital Inferred relationship Some
Hyperplastic chondrodystrophy Occurrence False Congenital Inferred relationship Some
Ectopic gallbladder Occurrence False Congenital Inferred relationship Some
Hecht syndrome Occurrence False Congenital Inferred relationship Some
Pelizaeus-Merzbacher disease, classic form Occurrence False Congenital Inferred relationship Some 4
Acquired pharyngoesophageal diverticulum Occurrence False Congenital Inferred relationship Some
Pyruvate carboxylase deficiency Occurrence True Congenital Inferred relationship Some 1
Isovaleryl-CoA dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Buphthalmos with congenital keratoglobus Occurrence False Congenital Inferred relationship Some
aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin avec développement normal des caractères sexuels secondaires et caryotype normal Occurrence False Congenital Inferred relationship Some
Cleft palate Occurrence False Congenital Inferred relationship Some
Female pseudohermaphroditism Occurrence False Congenital Inferred relationship Some
Congenital cranial osteoporosis Occurrence False Congenital Inferred relationship Some
Congenital megalogastria Occurrence False Congenital Inferred relationship Some
Biotinidase deficiency Occurrence True Congenital Inferred relationship Some 1
Nodular renal blastema Occurrence False Congenital Inferred relationship Some
Congenital onychauxis Occurrence False Congenital Inferred relationship Some
A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Occurrence False Congenital Inferred relationship Some
Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy, a rare hereditary disorder, and is characterised by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme fruste with prominent pachydermia and minimal-to-absent skeletal changes. Occurrence False Congenital Inferred relationship Some
Congenital stenosis of vena cava (disorder) Occurrence False Congenital Inferred relationship Some
16p partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Noonan syndrome Occurrence False Congenital Inferred relationship Some
Congenital anomaly of diaphragm Occurrence False Congenital Inferred relationship Some
Sanfilippo syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of nervous system Occurrence False Congenital Inferred relationship Some
Anomalous implantation of ureter Occurrence False Congenital Inferred relationship Some
Anomalous muscle bands of right ventricle Occurrence False Congenital Inferred relationship Some
Zellweger syndrome Occurrence False Congenital Inferred relationship Some
Lateral developmental cyst of jaw Occurrence False Congenital Inferred relationship Some
Nagele's pelvis Occurrence False Congenital Inferred relationship Some
Coronary artery arising from aorta Occurrence False Congenital Inferred relationship Some
Congenital absence of spermatic cord Occurrence False Congenital Inferred relationship Some
Cheilognathoprosoposchisis Occurrence False Congenital Inferred relationship Some
Kyphosis deformity of spine Occurrence False Congenital Inferred relationship Some
Congenital anomaly of cervix Occurrence False Congenital Inferred relationship Some
Congenital hypoplastic anemia Occurrence False Congenital Inferred relationship Some
Xeroderma pigmentosum, variant form Occurrence False Congenital Inferred relationship Some
4q partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of breast Occurrence False Congenital Inferred relationship Some
Congenital anomaly of liver Occurrence False Congenital Inferred relationship Some
Congenital web of esophagus Occurrence False Congenital Inferred relationship Some
Polymelia Occurrence False Congenital Inferred relationship Some
Congenital prolapsed uterus Occurrence False Congenital Inferred relationship Some
Crigler-Najjar syndrome, type I Occurrence True Congenital Inferred relationship Some 1
Anencephalus Occurrence False Congenital Inferred relationship Some
Congenital displacement of stomach Occurrence False Congenital Inferred relationship Some
Prader-Willi syndrome Occurrence False Congenital Inferred relationship Some
Gastrothoracopagus dipygus (disorder) Occurrence False Congenital Inferred relationship Some
Complete aphalangia of lower limb Occurrence False Congenital Inferred relationship Some
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Occurrence False Congenital Inferred relationship Some
Shwachman syndrome Occurrence False Congenital Inferred relationship Some
Persistent human tail Occurrence False Congenital Inferred relationship Some
Tetrahydrofolate methyltransferase deficiency Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease, type VII Occurrence True Congenital Inferred relationship Some 1
Katadidymus Occurrence False Congenital Inferred relationship Some
Pyknodysostosis Occurrence False Congenital Inferred relationship Some
Congenital neutropenia Occurrence True Congenital Inferred relationship Some 2
Congenital genu valgum Occurrence False Congenital Inferred relationship Some
Transposition of colon Occurrence False Congenital Inferred relationship Some
Congenital anomaly of skeletal muscle Occurrence False Congenital Inferred relationship Some
Ectopic pancreatic tissue in stomach Occurrence False Congenital Inferred relationship Some
Abnormal umbilical cord Occurrence False Congenital Inferred relationship Some
Collagen deficiency syndrome Occurrence False Congenital Inferred relationship Some
Hereditary orotic aciduria, type 2 Occurrence False Congenital Inferred relationship Some
Fetus papyraceous Occurrence False Congenital Inferred relationship Some
Frontal bossing Occurrence False Congenital Inferred relationship Some
Porokeratosis of Mibelli, linear unilateral type Occurrence False Congenital Inferred relationship Some
Autositic twin of asymmetrical conjoined twins (disorder) Occurrence False Congenital Inferred relationship Some
Congenital absence of aorta Occurrence False Congenital Inferred relationship Some
Generalized epidermolysis bullosa simplex Occurrence False Congenital Inferred relationship Some
Congenital anomaly of artery Occurrence False Congenital Inferred relationship Some
Carnitine palmitoyltransferase deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive hypophosphatemic vitamin D refractory rickets Occurrence False Congenital Inferred relationship Some
A disease caused by monosodium urate crystal deposition with any of the following clinical presentations (current or prior): gout flare, chronic gouty arthritis, or subcutaneous tophus. Occurrence False Congenital Inferred relationship Some
Persistent lanugo Occurrence False Congenital Inferred relationship Some
Congenital diverticulum of stomach Occurrence False Congenital Inferred relationship Some
Congenital asymmetry of jaw (disorder) Occurrence False Congenital Inferred relationship Some
3q partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Cordate pelvis Occurrence False Congenital Inferred relationship Some
Unilateral congenital subluxation of hip Occurrence False Congenital Inferred relationship Some
Muscle AMP deaminase deficiency Occurrence False Congenital Inferred relationship Some
Warburg syndrome Occurrence False Congenital Inferred relationship Some
Cephalodymus Occurrence False Congenital Inferred relationship Some
Sirenomelia sequence Occurrence False Congenital Inferred relationship Some
Congenital structural abnormality of eyelid Occurrence False Congenital Inferred relationship Some
Congenital anourethral fistula Occurrence False Congenital Inferred relationship Some
Congenital rectourethral fistula Occurrence False Congenital Inferred relationship Some
Disorder of the gamma-glutamyl cycle Occurrence False Congenital Inferred relationship Some

Start Previous Page 49 of 344 Next End

This concept is not in any reference sets

Back to Start