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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
    Geroderma osteodysplastica Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hereditary acroosteolysis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Feline osteogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Odontomicronychial ectodermal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Carpal-tarsal osteolysis with nephropathy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Namaqualand hip dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets type II with alopecia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogeneous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Berlin syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteochondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oral-facial-digital syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteoglophonic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachyrachia (short spine dysplasia) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Winchester syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Familial articular hypermobility syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fronto-naso-ethmoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteopathia striata Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Marshall syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia epiphysealis hemimelica Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mannosidosis, type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    [X]Other specified osteochondrodysplasias Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sialic acid storage disease, severe infantile type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    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 dysplasia Inferred relationship Some 1
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Shwachman syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metatropic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Unilateral congenital dysplasia of lung with vascular anomalies Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant hypophosphataemic bone disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hajdu-Cheney syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperphosphatasemia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cherubism with gingival fibromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Diaphyseal medullary stenosis with bone malignancy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitreoretinal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Vitreoretinal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Saldino-Mainzer dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypoplasia of right ventricular inflow tract (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Fibrous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Progressive diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cerebrofacial dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Cerebrofacial dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Stickler syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Hepatoportal microvascular dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hereditary mucoepithelial dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Larsen syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    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 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 3
    Maxillo-zygomatic dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypophosphataemic rickets with nephrotic-glycosuric dwarfism Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Genochondromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteopathia striata with cranial sclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ganglioside sialidase deficiency Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Temporo-auro-mandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Achondrogenesis, type IA Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Familial expansile osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mandibuloacral dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia, otherwise specified Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mannosidosis, type II Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pyle metaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Infantile cortical hyperostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondylodysplasia, San Diego type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondylodysplasia, Torrance type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    chondrodysplasie ponctuée congénitale Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hyperphosphatasia-osteoectasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mannosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysostosis multiplex group Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal anadysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Miller syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Singleton-Merten syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachyolmia - Hobaek type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysosteosclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Atelosteogenesis/diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Worth disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acroscyphodysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2

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    Reference Sets

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