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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
    183283010 Congenital malformation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    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 Only initial character 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 Is a anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Bardet-Biedl syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Cohen syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Pallister-Hall syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Multiple malformation syndrome due to non-infectious environmental agents Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Seckel syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Diastrophic dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    angiodysplasie ostéodystrophique Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Persistent omphalomesenteric artery (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Multiple epiphyseal dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Hyperphosphatasemia tarda Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Lethal multiple pterygium syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Maternal PKU fetal effect Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Fragile X syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Jarcho-Levin syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Fetal methyl mercury syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Familial arthrogryposis-cholestatic hepatorenal syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Chondroectodermal dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Franceschetti-Klein syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Frontometaphyseal dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Weaver syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Hajdu-Cheney syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Williams syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Larsen syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Dens evaginatus (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Multiple malformation syndrome with unusual brain and/or neuromuscular findings Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Myxedematous form of cretinism (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Multiple malformation syndrome with facial defects as major feature Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Cleidocranial dysostosis Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 4
    Fetal aminopterin syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Miller syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Fetal trimethadione syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Sirenoform monster Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Cerebral-retinal arteriovenous aneurysm (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    VACTEL syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Ataxia-telangiectasia syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Limb reduction-ichthyosis syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Rothmund-Thomson syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Fetal hydantoin syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hyperthermia-induced defect Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital adhesions of tongue Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Crooked calf syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Allemann's syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    X-linked hydrocephalus syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Aase syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Moore-Federman syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Pena-Shokeir phenotype Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Marshall-Smith syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Jugular lymphatic obstruction sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Tongue absent Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Endemic cretinism Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Sotos' syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Johanson-Blizzard syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Septo-optic dysplasia sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Robinow syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Angelman syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Amyoplasie, kongenitale Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Grebe syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Multiple malformation syndrome, moderate short stature, facial Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Neu-Laxova syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Steinert myotonic dystrophy syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Tuberculum paramolare Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 4
    Stickler syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Hallermann-Streiff syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Lowe syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Wildervanck syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Blepharophimosis syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Aplasia of cementum Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Marinesco-Sjögren syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Escobar syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Mulibrey nanism syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Opitz-Frias syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner. Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Multiple system malformation syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Dyggve-Melchior-Clausen syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Kenny syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Caudal regression syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Shprintzen syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Amniotic band syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Arteriovenous malformation of liver Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Bifid tongue Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Sporadic cretinism Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Radial aplasia-thrombocytopenia syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Immotile cilia syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Tetralogy of Fallot Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 5
    Schwartz syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Distichiasis-lymphedema syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Hutchinson's teeth Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Frontonasal dysplasia sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Bird tongue Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Hecht syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin avec développement normal des caractères sexuels secondaires et caryotype normal Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Noonan syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Zellweger syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Prader-Willi syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    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). Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Pyknodysostosis (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Warburg syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Sirenomelia sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital anomaly of carotid artery Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital elongation of innominate artery Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Lethal Kniest-like syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)

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