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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
    Craniometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Langer mesomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Langer-Giedion syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Leri's pleonosteosis syndrome 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
    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
    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
    Achondrogenesis, type IA Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Melorheostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Feline osteogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Madelung's deformity (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Maffucci syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteochondrodysplasia with osteopetrosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Beals auriculo-osteodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cherubism Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Kniest dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    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
    Osteogenesis imperfecta with progressive deformity AND normal sclerae 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
    Arthrochalasia Ehlers-Danlos syndrome (disorder) 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
    Juvenile fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Rhizomelic chondrodysplasia punctata syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mannosidosis, type II Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudohypoparathyroidism type I A Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Menkes kinky-hair syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cutis laxa, x-linked Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperphosphatasemia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dermatofibrosis lenticularis disseminata Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Infantile fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mannosidosis, type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple synostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Frontometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Antley-Bixler syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hajdu-Cheney syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Larsen syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Accessory ossification center Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type E 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
    Osteogenesis imperfecta with blue sclerae AND normal teeth 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
    Mannosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudo-Hurler polydystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cleidocranial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Miller syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acrodysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Vitamin D-dependent rickets, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    X-linked Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets Associated morphology False Congenital dysplasia Inferred relationship Some 1
    I-cell disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, recessive type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Familial articular hypermobility syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, dominant perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Short rib-polydactyly syndrome, Majewski type 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
    Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes. 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
    Hyperphosphatasia-osteoectasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Grebe syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Stickler syndrome 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
    Osteopathia striata 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
    Progressive myositis ossificans Associated morphology False Congenital dysplasia Inferred relationship Some 1
    syndrome d'Ehlers-Danlos type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, dysfibronectinemic Associated morphology False Congenital dysplasia Inferred relationship Some 1
    chondrodystrophie malacique Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple exostoses syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, recessive perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, dominant type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Salla disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Shwachman syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pyknodysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteopoikilosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lethal Kniest-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Rolland-Debuqois syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperphosphatasemia with bone disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Paralytic calcification / ossification of muscle Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lethal retarded ossification syndromes Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia, otherwise specified Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta - unclassifiable Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypophosphataemic rickets with nephrotic-glycosuric dwarfism Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple exostosis syndromes Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteochondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple congenital exostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1

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