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25283002: Congenital dysplasia (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    42393010 Congenital dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    755582019 Congenital dysplasia (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 dysplasia Is a anomalie congénitale false Inferred relationship Some
    Congenital dysplasia Is a Dysplasia false Inferred relationship Some
    Congenital dysplasia Is a Congenital malformation false Inferred relationship Some
    Congenital dysplasia Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Greenberg dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniodiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with decreased bone density Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple dislocations with dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal dominant hypophosphatemic rickets Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, Conradi-Hünermann type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae AND normal teeth Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    X-linked dominant chondrodysplasia punctata of Happle Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ganglioside sialidase deficiency Associated morphology False Congenital dysplasia Inferred relationship Some 1
    syndrome d'Ehlers-Danlos de type 7B Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Robinson nail dystrophy-deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Langer mesomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, X-linked recessive type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis multiplex Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Salla disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Furst-Ostrum syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Kniest-Stickler dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cerebellar cortical dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    [X]Osteochondrodysplasia with defect growth of tubular bone and spine unspecified Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloenchondromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Desbuquois syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloenchondromatosis with basal ganglia calcification (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Stuve-Wiedemann dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lethal Kniest-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Infantile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Familial x-linked hypophosphatemic vitamin D refractory rickets Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Melnick-Needles syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Arthrochalasia Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Langer-Giedion syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodystophy NEC Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasias with significant membranous bone involvement Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sphenoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Adult GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lethal chondrodysplasia with fragmented bone (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Enchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cranioectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    pseudochondroplasie Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cutis laxa, x-linked Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital ovarian dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Polyostotic fibrous dysplasia of bone Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fronto-malar faciosynostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis/diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal anadysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Saldino-Mainzer dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Genochondromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperphosphatasia-osteoectasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with sweating defect (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Defects of the tubular (and flat) bones and/or axial skeleton Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Progressive pseudorheumatoid dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylometaphyseal dysplasia - Sutcliffe type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Spahr type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachyolmia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acromicric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bent bone dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Kyphomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Singleton-Merten syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteopathia striata with cranial sclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Symphalangism-brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    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 dysplasia Inferred relationship Some 1
    Metachondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Omodysplasia II Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cherubism Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Kniest dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    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 dysplasia Inferred relationship Some 1
    syndrome d'Ehlers-Danlos type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib-polydactyly syndrome, Majewski type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Odonto-onycho-dermal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondrogenesis, type IA Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterised by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Curry-Hall syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pyle metaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, type IV B Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acroscyphodysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Sedaghatian type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteoplastic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometaphyseal dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bruck syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Weill-Marchesani syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Schneckenbecken dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Orofacial-digital syndrome IV Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia punctata Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia, type 1 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Geroderma osteodysplastica Associated morphology False Congenital dysplasia Inferred relationship Some 1

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    Reference Sets

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