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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
    Wolcott-Rallison dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Wolcott-Rallison dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 2
    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 2
    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
    Otomandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Otomandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Intermandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Intermandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Zygo-auro-mandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Zygo-auro-mandibular dysostosis 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 1
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Wolcott-Rallison dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Wolcott-Rallison dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia NOS 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
    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
    Otomandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Otomandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Intermandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Intermandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Zygo-auro-mandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Zygo-auro-mandibular dysostosis 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
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Baller-Gerold syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Temporo-auro-mandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Temporo-aural dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Internasal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Sphenoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Antley-Bixler syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bilateral renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bilateral renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cerebellar cortical dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloenchondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Miller syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia, otherwise specified Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia of kidney NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Precocious osteodysplasty (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, recessive type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypoplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Johanson-Blizzard syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Stickler syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with tooth-nail-sweating defect (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Shell teeth Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lethal retarded ossification syndromes Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Uhl's disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta type I (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Unilateral renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, type IV A Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pachyonychia congenita type III of Schafer-Brunauer (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    syndrome de Moynahan Associated morphology False Congenital dysplasia Inferred relationship Some 1
    syndrome d'Ehlers-Danlos de type cyphoscoliotique Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acromesomelic dysplasia Hunter-Thompson type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Juvenile fucosidosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type C (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type B (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Yunis-Varon dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, MT type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pachyonychia congenita type II of Jackson-Lawler (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lenz-Majewski hyperostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Schinzel-Giedion syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    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 3
    Spondyloepimetaphyseal disorder Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Wolcott-Rallison dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    chondrodysplasie ponctuée congénitale Associated morphology False Congenital dysplasia Inferred relationship Some 1
    I-cell disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type III (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal recessive spondyloepimetaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Omodysplasia I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Immuno-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Other specified osteodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Menkes kinky-hair syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests). Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple congenital exostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachyolmia - Maroteaux type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1

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