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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
    2848661000005114 Kongenit malformation da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Kongenit malformation Is a kongenit anomali false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Bardet-Biedl syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Cohen syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Pallister-Hall syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Multiple malformation syndrome due to non-infectious environmental agents Associated morphology False Kongenit malformation Inferred relationship Some
    Seckel syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Diastrophic dysplasia Associated morphology False Kongenit malformation Inferred relationship Some
    Klippel-Trénaunay-Webers syndrom Associated morphology False Kongenit malformation Inferred relationship Some 2
    Persistent omphalomesenteric artery Associated morphology False Kongenit malformation Inferred relationship Some 2
    Multiple epiphyseal dysplasia Associated morphology False Kongenit malformation Inferred relationship Some
    Hyperphosphatasemia tarda Associated morphology False Kongenit malformation Inferred relationship Some
    Lethal multiple pterygium syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Maternal PKU fetal effect Associated morphology False Kongenit malformation Inferred relationship Some
    Fragile X syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Jarcho-Levin syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Fetal methyl mercury syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Familial arthrogryposis-cholestatic hepatorenal syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Chondroectodermal dysplasia Associated morphology False Kongenit malformation Inferred relationship Some
    Franceschetti-Kleins syndrom Associated morphology False Kongenit malformation Inferred relationship Some
    Frontometaphyseal dysplasia Associated morphology False Kongenit malformation Inferred relationship Some
    Weaver syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Hajdu-Cheney syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Williams syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Larsen syndrome Associated morphology False Kongenit malformation Inferred relationship Some 2
    Dens evaginatus Associated morphology False Kongenit malformation Inferred relationship Some 3
    Multiple malformation syndrome with unusual brain and/or neuromuscular findings Associated morphology False Kongenit malformation Inferred relationship Some
    Myxedematous form of cretinism Associated morphology False Kongenit malformation Inferred relationship Some
    Multiple malformation syndrome with facial defects as major feature Associated morphology False Kongenit malformation Inferred relationship Some
    Cleidocranial dysostosis Associated morphology False Kongenit malformation Inferred relationship Some 4
    Fetal aminopterin syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Miller syndrome Associated morphology False Kongenit malformation Inferred relationship Some 2
    Fetal trimethadione syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Sirenomeli-misfoster Associated morphology False Kongenit malformation Inferred relationship Some
    Cerebral-retinal arteriovenous aneurysm (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 2
    VACTEL syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Ataxia-telangiectasia syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Limb reduction-ichthyosis syndrome (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Rothmund-Thomson syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Fetal hydantoin syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Hypertermi-induceret defekt Associated morphology False Kongenit malformation Inferred relationship Some
    Congenital adhesions of tongue Associated morphology False Kongenit malformation Inferred relationship Some 1
    Crooked calf syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Allemann's syndrome (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    X-linked hydrocephalus syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Aase syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Moore-Federman syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Pena-Shokeirs fænotype Associated morphology False Kongenit malformation Inferred relationship Some
    Marshall-Smith syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Jugular lymphatic obstruction sequence Associated morphology False Kongenit malformation Inferred relationship Some
    Tongue absent Associated morphology False Kongenit malformation Inferred relationship Some 2
    Endemic cretinism Associated morphology False Kongenit malformation Inferred relationship Some
    Sotos' syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Johanson-Blizzard syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Septo-optic dysplasia sequence (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 3
    A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive. Associated morphology False Kongenit malformation Inferred relationship Some
    Angelman syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    kongenit multipel artrogrypose Associated morphology False Kongenit malformation Inferred relationship Some
    Grebe syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Multiple malformation syndrome, moderate short stature, facial Associated morphology False Kongenit malformation Inferred relationship Some
    A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive manner. Associated morphology False Kongenit malformation Inferred relationship Some
    Steinert myotonic dystrophy syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Tuberculum paramolare Associated morphology False Kongenit malformation Inferred relationship Some 4
    Stickler syndrome Associated morphology False Kongenit malformation Inferred relationship Some 2
    Hallermann-Streiff syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Lowe syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Wildervanck syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Blefarofimosesyndrom Associated morphology False Kongenit malformation Inferred relationship Some
    Aplasia of cementum Associated morphology False Kongenit malformation Inferred relationship Some 2
    Marinesco-Sjögren syndrome (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Escobar syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Mulibrey nanism syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Opitz-Frias syndrome Associated morphology False Kongenit malformation Inferred relationship Some 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 Kongenit malformation Inferred relationship Some
    Multiple system malformation syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    A rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasia. The disease has characteristics of progressive dwarfism with short trunk, protruding sternum, microcephaly and intellectual disability of varying severity. Caused by mutations of the DYM gene (18q21.1). The large majority of mutations identified in the gene predict a loss of function of its product. DYM is expressed in the majority of tissue and codes for Dymeclin, a protein that interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown. Transmission is autosomal recessive. Associated morphology False Kongenit malformation Inferred relationship Some
    Kenny syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Caudal regression syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Shprintzens syndrom Associated morphology False Kongenit malformation Inferred relationship Some 2
    Afklemningssyndrom Associated morphology False Kongenit malformation Inferred relationship Some
    Arteriovenous malformation of liver Associated morphology False Kongenit malformation Inferred relationship Some 2
    Bifid tongue Associated morphology False Kongenit malformation Inferred relationship Some 2
    Sporadic cretinism Associated morphology False Kongenit malformation Inferred relationship Some
    Radial aplasia-thrombocytopenia syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Immotile cilia syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Tetralogy of Fallot Associated morphology False Kongenit malformation Inferred relationship Some 5
    Schwartz' syndrom Associated morphology False Kongenit malformation Inferred relationship Some
    Distichiasis-lymphedema syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Hutchinson's teeth Associated morphology False Kongenit malformation Inferred relationship Some 1
    Frontonasal dysplasia sequence Associated morphology False Kongenit malformation Inferred relationship Some
    Bird tongue Associated morphology False Kongenit malformation Inferred relationship Some 3
    Hecht syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Rokitanskys sekvens Associated morphology False Kongenit malformation Inferred relationship Some 1
    Noonan syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Zellweger syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Prader-Willi syndrome Associated morphology False Kongenit 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 Kongenit malformation Inferred relationship Some 3
    Pyknodysostosis Associated morphology False Kongenit malformation Inferred relationship Some
    Walker-Warburgs syndrom Associated morphology False Kongenit malformation Inferred relationship Some
    Sirenomeli-sekvens Associated morphology False Kongenit malformation Inferred relationship Some
    Congenital anomaly of carotid artery Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital elongation of innominate artery Associated morphology False Kongenit malformation Inferred relationship Some 2
    Lethal Kniest-like syndrome Associated morphology False Kongenit malformation Inferred relationship Some

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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