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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
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Supernumerary roots Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Multiple malformation syndrome with senile-like appearance Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Trifid tongue Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Femoral hypoplasia - unusual facies syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Melnick-Needles syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Lenz-Majewski hyperostosis syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Aarskog syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Russell-Silver syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Coffin-Lowry syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    First arch syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital arteriovenous fistula of kidney Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Anodontie Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Fetal valproate syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Fusion of teeth Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Sclerosteosis (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Mohr syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Mesiodens Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Trichorhinophalangeal syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Early urethral obstruction sequence (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Schinzel-Giedion syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Holt-Oram syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Cockayne syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Borjeson-Forssman-Lehmann syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Metatropic dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Levy-Hollister syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Laterality sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Metaphyseal chondrodysplasia, Jansen type (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Townes syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital cerebral arteriovenous aneurysm (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Dubowitz's syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Anodontia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Inherited arthrogryposis Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Melnick-Fraser syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Meckel-Gruber syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Schwartz-Jampel syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Thanatophoric dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Klippel's disease Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Peg-shaped teeth Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Kundrat's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ruvalcaba syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Holoprosencephaly sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microglossia (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Marshall syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Nievergelt's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    MVRCS association Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Hanhart's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Nager syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Thalidomide embryopathy syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Craniometaphyseal dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    embryopathie causée par l'acide rétinoïque Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Royer's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Oculodentodigital syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Fetal warfarin syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Dolichocephalic dwarfism (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Facio-auriculo-vertebral spectrum (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Mietens syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    De Lange syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Langer-Giedion syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Cerebro-oculo-facio-skeletal syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Multiple malformation syndrome with limb defect as major feature Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Kartagener syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Oto-palato-digital syndrome, type II Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Ectopic tooth Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Atelosteogenesis Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Smith-Lemli-Opitz syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Bloom syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Rubinstein-Taybi syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Ruvalcaba-Myhre syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Robin sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Rieger syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (CHARGE) association (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Otocephalic syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Multiple malformation syndrome with early overgrowth Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Roberts-SC phocomelia syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Duhamel's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    FG syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteochondrodysplasia with osteopetrosis (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Grob's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    syndrome de Cayler Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Werner syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Cerebro-costo-mandibular syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Akabane virus disease Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Spondyloepiphyseal dysplasia tarda Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Freeman-Sheldon syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Oral-facial-digital syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Kniest dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Oto-palato-digital syndrome, type I Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Hay-Wells syndrome of ectodermal dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Athyrotic hypothyroidism sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Bardet-Biedl syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)

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