FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  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 Is a anomalie congénitale false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Bardet-Biedl syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Cohen syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Pallister-Hall syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome due to non-infectious environmental agents Associated morphology False Congenital malformation Inferred relationship Some
    Seckel syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Diastrophic dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    angiodysplasie ostéodystrophique Associated morphology False Congenital malformation Inferred relationship Some 2
    Persistent omphalomesenteric artery Associated morphology False Congenital malformation Inferred relationship Some 2
    Multiple epiphyseal dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    Hyperphosphatasemia tarda Associated morphology False Congenital malformation Inferred relationship Some
    Lethal multiple pterygium syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Maternal PKU fetal effect Associated morphology False Congenital malformation Inferred relationship Some
    Fragile X syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Jarcho-Levin syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Fetal methyl mercury syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Familial arthrogryposis-cholestatic hepatorenal syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Chondroectodermal dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    Franceschetti-Klein syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Frontometaphyseal dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    Weaver syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Hajdu-Cheney syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Williams syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Larsen syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Dens evaginatus Associated morphology False Congenital malformation Inferred relationship Some 3
    Multiple malformation syndrome with unusual brain and/or neuromuscular findings Associated morphology False Congenital malformation Inferred relationship Some
    Myxoedematous form of cretinism Associated morphology False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome with facial defects as major feature Associated morphology False Congenital malformation Inferred relationship Some
    Cleidocranial dysostosis Associated morphology False Congenital malformation Inferred relationship Some 4
    Fetal aminopterin syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Miller syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Fetal trimethadione syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Sirenoform monster Associated morphology False Congenital malformation Inferred relationship Some
    Cerebral-retinal arteriovenous aneurysm (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    VACTEL syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Ataxia-telangiectasia syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Limb reduction-ichthyosis syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Rothmund-Thomson syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Fetal hydantoin syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Hyperthermia-induced defect Associated morphology False Congenital malformation Inferred relationship Some
    Congenital adhesions of tongue (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Crooked calf syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Allemann's syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    X-linked hydrocephalus syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Aase syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Moore-Federman syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Pena-Shokeir phenotype Associated morphology False Congenital malformation Inferred relationship Some
    Marshall-Smith syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Jugular lymphatic obstruction sequence Associated morphology False Congenital malformation Inferred relationship Some
    Tongue absent Associated morphology False Congenital malformation Inferred relationship Some 2
    Endemic cretinism Associated morphology False Congenital malformation Inferred relationship Some
    Sotos' syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Johanson-Blizzard syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Septo-optic dysplasia sequence Associated morphology False Congenital malformation Inferred relationship Some 3
    Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Associated morphology False Congenital malformation Inferred relationship Some
    Angelman syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Amyoplasie, kongenitale Associated morphology False Congenital malformation Inferred relationship Some
    Grebe syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome, moderate short stature, facial Associated morphology False Congenital malformation Inferred relationship Some
    Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Associated morphology False Congenital malformation Inferred relationship Some
    A rare genetic multi-system disorder characterised by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. Associated morphology False Congenital malformation Inferred relationship Some
    Tuberculum paramolare Associated morphology False Congenital malformation Inferred relationship Some 4
    Stickler syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Hallermann-Streiff syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Lowe syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Wildervanck syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Blepharophimosis syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Aplasia of cementum Associated morphology False Congenital malformation Inferred relationship Some 2
    Marinesco-Sjögren syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Escobar syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Mulibrey nanism syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Opitz-Frias syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. Associated morphology False Congenital malformation Inferred relationship Some
    Multiple system malformation syndrome Associated morphology False Congenital malformation Inferred relationship Some
    A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests). Associated morphology False Congenital malformation Inferred relationship Some
    Kenny syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Caudal regression syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Shprintzen syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Amniotic band syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Arteriovenous malformation of liver Associated morphology False Congenital malformation Inferred relationship Some 2
    Bifid tongue Associated morphology False Congenital malformation Inferred relationship Some 2
    Sporadic cretinism Associated morphology False Congenital malformation Inferred relationship Some
    Radial aplasia-thrombocytopenia syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Immotile cilia syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Tetralogy of Fallot Associated morphology False Congenital malformation Inferred relationship Some 5
    Schwartz syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Distichiasis-lymphedema syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Hutchinson's teeth Associated morphology False Congenital malformation Inferred relationship Some 1
    Frontonasal dysplasia sequence Associated morphology False Congenital malformation Inferred relationship Some
    Bird tongue Associated morphology False Congenital malformation Inferred relationship Some 3
    Hecht syndrome Associated morphology False Congenital malformation 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 Associated morphology False Congenital malformation Inferred relationship Some 1
    Noonan syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Zellweger syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Prader-Willi syndrome Associated morphology False Congenital malformation 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). Associated morphology False Congenital malformation Inferred relationship Some 3
    Pyknodysostosis Associated morphology False Congenital malformation Inferred relationship Some
    Warburg syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Sirenomelia sequence Associated morphology False Congenital malformation Inferred relationship Some
    Congenital anomaly of carotid artery Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital elongation of innominate artery Associated morphology False Congenital malformation Inferred relationship Some 2
    Lethal Kniest-like syndrome Associated morphology False Congenital malformation Inferred relationship Some

    Start Previous Page 8 of 18 Next End

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start