FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.5  |  FHIR Version n/a  User: [n/a]

112635002: Congenital malformation (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    183283010 Congenital malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    642068012 Congenital malformation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital malformation est un(e) (attribut) Congenital anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Pena-Shokeir phenotype morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Marshall-Smith syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Jugular lymphatic obstruction sequence morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Tongue absent morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Endemic cretinism morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Sotos' syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Johanson-Blizzard syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Septo-optic dysplasia sequence morphologie associée (attribut) False Congenital malformation Inferred relationship Some 3
    Robinow syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Angelman syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Amyoplasia congenita disruptive sequence morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Grebe syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome, moderate short stature, facial morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Neu-Laxova syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Steinert myotonic dystrophy syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Tuberculum paramolare morphologie associée (attribut) False Congenital malformation Inferred relationship Some 4
    Stickler syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Hallermann-Streiff syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Lowe syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Wildervanck syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Blepharophimosis syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Aplasia of cementum morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    syndrome de Marinesco-Sjögren morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Escobar syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Mulibrey nanism syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Opitz-Frias syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Treacher Collins syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome de malformations multisystémiques morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Dyggve-Melchior-Clausen syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Kenny syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Caudal regression syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Shprintzen syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Amniotic band syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Arteriovenous malformation of liver morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Bifid tongue morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Sporadic cretinism morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Radial aplasia-thrombocytopenia syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Immotile cilia syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Tetralogy of Fallot morphologie associée (attribut) False Congenital malformation Inferred relationship Some 5
    Schwartz syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Distichiasis-lymphedema syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Hutchinson's teeth morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Frontonasal dysplasia sequence morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Bird tongue morphologie associée (attribut) False Congenital malformation Inferred relationship Some 3
    Hecht syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Rokitansky sequence morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Noonan syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Zellweger syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Prader-Willi syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Oromandibular-limb hypogenesis spectrum morphologie associée (attribut) False Congenital malformation Inferred relationship Some 3
    Pyknodysostosis morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Warburg syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Sirenomelus sequence morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Congenital anomaly of carotid artery morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Congenital elongation of innominate artery morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Lethal Kniest-like syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Congenital malposition of the thyroid gland morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Congenital protrusion of tongue morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Retroesophageal carotid artery morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Rolland-Debuqois syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Congenital arteriovenous malformation of gastrointestinal tract (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Arteriovenous malformation of kidney morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Retinal arteriovenous malformation morphologie associée (attribut) False Congenital malformation Inferred relationship Some 3
    Congenital arteriovenous malformation of retina morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Pentalogy of Fallot morphologie associée (attribut) False Congenital malformation Inferred relationship Some 6
    Hemicardia morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Absence or hypoplasia of the umbilical artery morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Arteriovenous malformation of precerebral vessels morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Fetal alcohol syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Fetal or neonatal effect of maternal use of alcohol morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Congenital malformation syndromes affecting facial appearance morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Congenital malformation syndromes associated with short stature morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Congenital malformation syndromes involving limbs morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Aglossia-adactyly syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Congenital malformation syndromes with metabolic disturbances morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Biemond's syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Ullrich-Feichtiger syndrome, chimera morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Acephalothorax morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Congenital arteriovenous fistula of brain morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Mermaid sirenomelia morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Dextraposition of aorta in Fallot's tetralogy morphologie associée (attribut) False Congenital malformation Inferred relationship Some 6
    Ventricular septal defect in Fallot's tetralogy morphologie associée (attribut) False Congenital malformation Inferred relationship Some 7
    Atelosteogenesis/diastrophic dysplasia morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Kniest-Stickler dysplasia morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Congenital malformation syndrome due to known exogenous cause morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Arteriovenous malformation of skin morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    anévrisme périphérique congénital morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    fœtus ou nouveau-né affecté par le transfert placentaire ou mammaire d'alcool morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Congenital malformation of the respiratory system morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Peripheral arteriovenous malformation morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Tetralogy of Fallot NOS morphologie associée (attribut) False Congenital malformation Inferred relationship Some 6
    Anomaly of artery NEC morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Atresia of artery NEC morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Congenital brain aneurysm NEC morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Congenital aneurysm NEC morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Arthrogryposis, unspecified morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Other arthrogryposis syndromes morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Multiple epiphyseal dysplasia NOS morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Congenital malformation syndrome affecting facial appearance NOS morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Congenital malformation syndrome associated with short stature NOS morphologie associée (attribut) False Congenital malformation Inferred relationship Some

    Start Previous Page 5 of 18 Next End

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start