FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.3  |  FHIR Version n/a  User: [n/a]

276654001: Congenital malformation (disorder)

Status: current, Defined. Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3006530018 Fetal developmental abnormality en Synonym Active Case insensitive SNOMED CT core
3006540015 Foetal developmental abnormality en Synonym Active Case insensitive SNOMED CT core
3006559018 Congenital anomaly en Synonym Active Case insensitive SNOMED CT core
3006590016 Congenital abnormality en Synonym Active Case insensitive SNOMED CT core
3011594016 Foetal malformation en Synonym Active Case insensitive SNOMED CT core
412903018 Congenital malformation en Synonym Active Case insensitive SNOMED CT core
412904012 Fetal malformation en Synonym Active Case insensitive SNOMED CT core
412905013 CM - Congenital malformation en Synonym Active Case sensitive SNOMED CT core
669595015 Congenital malformation (disorder) en Fully specified name Active Case insensitive SNOMED CT core

7797 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital anomaly Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly Is a Developmental disorder true Inferred relationship Some
Congenital anomaly Associated morphology Congenital malformation false Inferred relationship Some
Congenital anomaly Is a Congenital anomaly false Inferred relationship Some
Congenital anomaly Is a Congenital disease true Inferred relationship Some
Congenital anomaly Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly Associated morphology Developmental abnormality false Inferred relationship Some 1
Congenital anomaly Occurrence Congenital false Inferred relationship Some
Congenital anomaly Is a Congenital disease false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Dominant dystrophic epidermolysis bullosa with absence of skin Is a False Congenital anomaly Inferred relationship Some
Congenital anomaly of sternebra Is a False Congenital anomaly Inferred relationship Some
Congenital hypoplasia of fovea centralis Is a False Congenital anomaly Inferred relationship Some
Congenital anomaly of sphenoid wing Is a False Congenital anomaly Inferred relationship Some
Jeune thoracic dystrophy Is a False Congenital anomaly Inferred relationship Some
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism Is a False Congenital anomaly Inferred relationship Some
Spinal meningocele Is a False Congenital anomaly Inferred relationship Some
Cervical spinal hydromeningocele Is a False Congenital anomaly Inferred relationship Some
Congenital malformation of the urinary system Is a False Congenital anomaly Inferred relationship Some
Hemicardia Is a False Congenital anomaly Inferred relationship Some
Congenital malformation syndromes with metabolic disturbances Is a False Congenital anomaly Inferred relationship Some
Acephalothorax Is a False Congenital anomaly Inferred relationship Some
Craniosynostosis syndrome Is a False Congenital anomaly Inferred relationship Some
Multiple gastrointestinal atresias Is a False Congenital anomaly Inferred relationship Some
Trilogy of Fallot Is a False Congenital anomaly Inferred relationship Some
Infundibular pulmonic stenosis Is a False Congenital anomaly Inferred relationship Some
Congenital malformation of eye, ear and neck Is a False Congenital anomaly Inferred relationship Some
Congenital malformation of the meninges Is a False Congenital anomaly Inferred relationship Some
Common atrioventricular orifice in double inlet ventricle Is a True Congenital anomaly Inferred relationship Some
Congenital right ventricular diverticulum Is a False Congenital anomaly Inferred relationship Some
Spinal hydromeningocele Is a False Congenital anomaly Inferred relationship Some
Congenital anomaly of vitreous humour Is a False Congenital anomaly Inferred relationship Some
Congenital anomaly of upper digestive tract Is a False Congenital anomaly Inferred relationship Some
Congenital lordosis/scoliosis Is a False Congenital anomaly Inferred relationship Some
Congenital malformation of angle of anterior chamber of eye Is a False Congenital anomaly Inferred relationship Some
Congenital anomaly of corpus callosum Is a False Congenital anomaly Inferred relationship Some
Congenital anomaly of ear Is a False Congenital anomaly Inferred relationship Some
Congenital kyphosis Is a False Congenital anomaly Inferred relationship Some
Atrioventricular septal defect and common atrioventricular junction Is a False Congenital anomaly Inferred relationship Some
Fused commissures of mitral valve Is a False Congenital anomaly Inferred relationship Some
Fused mitral papillary muscles Is a False Congenital anomaly Inferred relationship Some
Commissural fusion of truncal valve Is a False Congenital anomaly Inferred relationship Some
Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim Is a False Congenital anomaly Inferred relationship Some
Fused tricuspid papillary muscle Is a False Congenital anomaly Inferred relationship Some
Congenital fusion of pulmonic cusps Is a False Congenital anomaly Inferred relationship Some
Congenital supravalvular mitral stenosis Is a False Congenital anomaly Inferred relationship Some
Ventricular septal defect with malaligned outlet septum Is a False Congenital anomaly Inferred relationship Some
Right ventricular outflow tract atresia Is a False Congenital anomaly Inferred relationship Some
Parachute malformation of mitral valve Is a False Congenital anomaly Inferred relationship Some
Congenital stenosis of mitral subvalvular apparatus Is a False Congenital anomaly Inferred relationship Some
[X]Other congenital malformations Is a False Congenital anomaly Inferred relationship Some
[X]Other specified congenital malformation syndromes, not elsewhere classified Is a False Congenital anomaly Inferred relationship Some
[X]Other specified congenital malformations Is a False Congenital anomaly Inferred relationship Some
Fetus with central nervous system malformation Is a False Congenital anomaly Inferred relationship Some
Congenital subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart Is a False Congenital anomaly Inferred relationship Some
Congenital hypoplasia of brain Is a False Congenital anomaly Inferred relationship Some
Cystic malformation of posterior fossa Is a False Congenital anomaly Inferred relationship Some
Anal atresia Is a False Congenital anomaly Inferred relationship Some
Congenital fistula of anus Is a False Congenital anomaly Inferred relationship Some
Anorectal agenesis Is a False Congenital anomaly Inferred relationship Some
Kasabach-Merritt syndrome Is a False Congenital anomaly Inferred relationship Some
Amyelia Is a False Congenital anomaly Inferred relationship Some
Hemimyelia Is a False Congenital anomaly Inferred relationship Some
Congenital absence of vulva Is a False Congenital anomaly Inferred relationship Some
Congenital absence of tendon Is a False Congenital anomaly Inferred relationship Some
Hemianencephaly Is a False Congenital anomaly Inferred relationship Some
Congenital absence Is a False Congenital anomaly Inferred relationship Some
Congenital anomaly of visual system Is a True Congenital anomaly Inferred relationship Some
Developmental malformation of branchial arch Is a True Congenital anomaly Inferred relationship Some
Congenital anomaly of neck Is a True Congenital anomaly Inferred relationship Some
Congenital anomaly of head Is a True Congenital anomaly Inferred relationship Some
Congenital anomaly of nervous system Is a True Congenital anomaly Inferred relationship Some
Congenital anomaly of cardiovascular system Is a True Congenital anomaly Inferred relationship Some
Congenital anomaly of body wall Is a True Congenital anomaly Inferred relationship Some
Congenital anomaly of integument Is a True Congenital anomaly Inferred relationship Some
Congenital anomaly of musculoskeletal system Is a True Congenital anomaly Inferred relationship Some
Single congenital anomaly Is a True Congenital anomaly Inferred relationship Some
Congenital anomaly of the haematopoietic system Is a True Congenital anomaly Inferred relationship Some
Congenital abnormality of lower limb and pelvic girdle Is a True Congenital anomaly Inferred relationship Some
Congenital anomaly of digestive system Is a True Congenital anomaly Inferred relationship Some
Congenital red cell hypoplasia Is a False Congenital anomaly Inferred relationship Some
Fluoroscopic percutaneous angiography of heart for complex congenital anomaly with contrast Has focus True Congenital anomaly Inferred relationship Some 1
Congenital anomaly of limb Is a True Congenital anomaly Inferred relationship Some
Congenital anomaly of endocrine gland Is a True Congenital anomaly Inferred relationship Some
Congenital anomaly of back Is a True Congenital anomaly Inferred relationship Some
Amegakaryocytic thrombocytopenia with congenital malformation Is a False Congenital anomaly Inferred relationship Some
Congenital hamartoma Is a False Congenital anomaly Inferred relationship Some
Congenital anomaly of trunk Is a True Congenital anomaly Inferred relationship Some
Congenital hypoplasia of genital tubercle Is a True Congenital anomaly Inferred relationship Some
Congenital anomaly of fetus Is a False Congenital anomaly Inferred relationship Some
Albinism Is a True Congenital anomaly Inferred relationship Some
Additional sex chromosome Is a False Congenital anomaly Inferred relationship Some
Congenital elliptocytosis Is a False Congenital anomaly Inferred relationship Some
Conjoined twins Is a True Congenital anomaly Inferred relationship Some
Embryological remnant Is a True Congenital anomaly Inferred relationship Some
Structural developmental anomalies of neurenteric canal Is a True Congenital anomaly Inferred relationship Some
Congenital melanosis Is a False Congenital anomaly Inferred relationship Some
Deformity due to amniotic band Is a False Congenital anomaly Inferred relationship Some
Congenital ectodermal defect Is a True Congenital anomaly Inferred relationship Some
Bowen-Conradi syndrome Is a True Congenital anomaly Inferred relationship Some
KBG syndrome Is a False Congenital anomaly Inferred relationship Some
Family history of single congenital anomaly Associated finding True Congenital anomaly Inferred relationship Some 1
Fluoroscopic percutaneous angiography of heart with contrast for congenital anomaly Has focus True Congenital anomaly Inferred relationship Some 1
Congenital hemihypertrophy Is a True Congenital anomaly Inferred relationship Some
Nicolaides-Baraitser syndrome Is a True Congenital anomaly Inferred relationship Some
Antenatal screening for malformation Has focus False Congenital anomaly Inferred relationship Some 1
Infection causing congenital anomaly Is a False Congenital anomaly Inferred relationship Some
Congenital anomaly of mother complicating pregnancy Is a True Congenital anomaly Inferred relationship Some
Retinitis pigmentosa-deafness syndrome Is a True Congenital anomaly Inferred relationship Some
Screening for congenital malformation Has focus False Congenital anomaly Inferred relationship Some 1
Cyst of Wolffian duct Is a True Congenital anomaly Inferred relationship Some

Start Previous Page 10 of 11 End

Reference Sets

Emergency department reference set

Australian emergency department reference set

NSW Emergency Department reference set

Clinical finding foundation reference set

Emergency department diagnosis reference set

Problem/Diagnosis reference set

Back to Start