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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
    Brachyolmia - Maroteaux type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia with joint laxity (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Premaxillo-maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteopoikilosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia, type 2 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplasia, San Diego type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Type IV short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Infantile fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type III (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Leri-Weill dyschondrosteosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Opsismodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pachyonychia congenita syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondylodysplasia, Torrance type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fronto-frontal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Otospondylomegaepiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Madelung's deformity (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Larsen syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplasia, Luton type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Boomerang dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudodiastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Type III short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acromesomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Adult fucosidosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachyolmia - Hobaek type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondrogenesis, type II Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Sponastrime dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia, unspecified Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia, syndactyly and pili torti Associated morphology False Congenital dysplasia Inferred relationship Some 1
    dysplasie dermodentaire Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Maxillo-zygomatic dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplasia, unspecified Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Other lethal retarded ossification syndromes Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, dominant type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cole-Carpenter dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Anonychia with bizarre flexural pigmentation Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ectodermal dysplasia with hair-tooth defects Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type E Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis multiplex group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    syndrome dento-oculocutané Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata (stippled epiphyses) group (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodentodigital syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Dyschondroplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Salamon's syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Rhizomelic chondrodysplasia punctata syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Juvenile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypohidrosis-diabetes insipidus syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hallermann-Streiff syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteodysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ectodermal dysplasia-ocular malformation syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital skeletal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fried's tooth and nail syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Patella dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Leri's pleonosteosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Greig cephalopolysyndactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Scypho-patellar dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Greither type of ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Kirman syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mesomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Schmid type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypochondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mixed sclerosing bone dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Senter syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with tooth-nail defects Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic dysplasia, type I (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with tooth-sweating defect Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Grebe syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Familial expansile osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sialic storage disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mannosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic dysplasia, type II (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Orofacial-digital syndrome III Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Tricho-oculodermovertebral syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Torg type osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    dysplasie ostéodysplasique microcéphalique type Saul-Wilson Associated morphology False Congenital dysplasia Inferred relationship Some 1
    syndrome de Schoef-Schulz-Passage Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Unilateral dysplastic hip Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Fibrous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Odontotrichomelic syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hajdu-Cheney syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplastic group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sclerosteosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1

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    Reference Sets

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    SAME AS association reference set (foundation metadata concept)

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