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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

    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
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital malformation Inferred relationship Some
    Supernumerary roots Associated morphology False Congenital malformation Inferred relationship Some 2
    Multiple malformation syndrome with senile-like appearance Associated morphology False Congenital malformation Inferred relationship Some
    Trifid tongue Associated morphology False Congenital malformation Inferred relationship Some 1
    Femoral hypoplasia - unusual facies syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Melnick-Needles syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Lenz-Majewski hyperostosis syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Aarskog syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Russell-Silver syndrome Associated morphology False Congenital malformation Inferred relationship Some
    A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. Associated morphology False Congenital malformation Inferred relationship Some 3
    First arch syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Congenital arteriovenous fistula of kidney Associated morphology False Congenital malformation Inferred relationship Some 1
    Anodontie Associated morphology False Congenital malformation Inferred relationship Some 3
    A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. Associated morphology False Congenital malformation Inferred relationship Some
    Fetal valproate syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Fusion of teeth Associated morphology False Congenital malformation Inferred relationship Some 3
    Sclerosteosis Associated morphology False Congenital malformation Inferred relationship Some
    A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. Associated morphology False Congenital malformation Inferred relationship Some
    Mohr syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    A supernumerary tooth located near the midline of the dental arch between two central incisors. Associated morphology False Congenital malformation Inferred relationship Some 2
    Trichorhinophalangeal syndrome Associated morphology False Congenital malformation Inferred relationship Some 3
    Early urethral obstruction sequence Associated morphology False Congenital malformation Inferred relationship Some
    Schinzel-Giedion syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology False Congenital malformation Inferred relationship Some 1
    Cockayne syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Borjeson-Forssman-Lehmann syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Metatropic dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False Congenital malformation Inferred relationship Some 1
    Levy-Hollister syndrome Associated morphology False Congenital malformation Inferred relationship Some
    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 Some
    Laterality sequence Associated morphology False Congenital malformation Inferred relationship Some
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False Congenital malformation Inferred relationship Some
    Townes syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital cerebral arteriovenous aneurysm Associated morphology False Congenital malformation Inferred relationship Some 1
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Congenital malformation Inferred relationship Some 3
    Dubowitz's syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Anodontia Associated morphology False Congenital malformation Inferred relationship Some 3
    VATER association Associated morphology False Congenital malformation Inferred relationship Some
    Inherited arthrogryposis Associated morphology False Congenital malformation Inferred relationship Some
    Melnick-Fraser syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Meckel-Gruber syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Schwartz-Jampel syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Thanatophoric dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    Klippel's disease Associated morphology False Congenital malformation Inferred relationship Some
    Peg-shaped teeth Associated morphology False Congenital malformation Inferred relationship Some 1
    Kundrat's syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Ruvalcaba syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Holoprosencephaly sequence Associated morphology False Congenital malformation Inferred relationship Some 2
    Microglossia Associated morphology False Congenital malformation Inferred relationship Some 3
    Marshall syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Nievergelt's syndrome Associated morphology False Congenital malformation Inferred relationship Some
    MVRCS association Associated morphology False Congenital malformation Inferred relationship Some
    Hanhart's syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Nager syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Thalidomide embryopathy syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Craniometaphyseal dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    embryopathie causée par l'acide rétinoïque Associated morphology False Congenital malformation Inferred relationship Some
    Royer's syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Oculodentodigital syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Fetal warfarin syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Dolichocephalic dwarfism Associated morphology False Congenital malformation Inferred relationship Some
    Facio-auriculo-vertebral spectrum (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Mietens syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    De Lange syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital malformation Inferred relationship Some
    Langer-Giedion syndrome Associated morphology False Congenital malformation Inferred relationship Some 3
    Cerebro-oculo-facio-skeletal syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome with limb defect as major feature Associated morphology False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome, small stature, without skeletal dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    Kartagener syndrome Associated morphology False Congenital malformation Inferred relationship Some
    A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Associated morphology False Congenital malformation Inferred relationship Some 2
    Ectopic tooth (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Atelosteogenesis (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Smith-Lemli-Opitz syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Bloom syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Rubinstein-Taybi syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Ruvalcaba-Myhre syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Robin sequence Associated morphology False Congenital malformation Inferred relationship Some
    A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS). Associated morphology False Congenital malformation Inferred relationship Some
    Rieger syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Associated morphology False Congenital malformation Inferred relationship Some
    Otocephalic syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome with early overgrowth Associated morphology False Congenital malformation Inferred relationship Some
    Roberts-SC phocomelia syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Duhamel's syndrome Associated morphology False Congenital malformation Inferred relationship Some
    FG syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Osteochondrodysplasia with osteopetrosis Associated morphology False Congenital malformation Inferred relationship Some
    Grob's syndrome Associated morphology False Congenital malformation Inferred relationship Some
    syndrome de Cayler Associated morphology False Congenital malformation Inferred relationship Some
    Werner syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Cerebro-costo-mandibular syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Akabane virus disease Associated morphology False Congenital malformation Inferred relationship Some
    Spondyloepiphyseal dysplasia tarda Associated morphology False Congenital malformation Inferred relationship Some
    A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Associated morphology False Congenital malformation Inferred relationship Some 1
    Oral-facial-digital syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Kniest dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Associated morphology False Congenital malformation Inferred relationship Some 2
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False Congenital malformation Inferred relationship Some 2
    Athyrotic hypothyroidism sequence Associated morphology False Congenital malformation Inferred relationship Some
    Bardet-Biedl syndrome Associated morphology False Congenital malformation Inferred relationship Some

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