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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Paramedian facial cleft - Tessier cleft 2 Occurrence False Congenital Inferred relationship Some
Paramedian facial cleft - Tessier cleft 3 Occurrence False Congenital Inferred relationship Some
Supraorbital facial cleft - Tessier cleft 8 Occurrence False Congenital Inferred relationship Some
Supraorbital facial cleft - Tessier cleft 9 (disorder) Occurrence False Congenital Inferred relationship Some
Supraorbital facial cleft - Tessier cleft 10 Occurrence False Congenital Inferred relationship Some
Supraorbital facial cleft - Tessier cleft 11 Occurrence False Congenital Inferred relationship Some
Supraorbital facial cleft - Tessier cleft 12 Occurrence False Congenital Inferred relationship Some
Supraorbital facial cleft - Tessier cleft 13 (disorder) Occurrence False Congenital Inferred relationship Some
Infraorbital facial cleft - Tessier cleft 4 Occurrence False Congenital Inferred relationship Some
Infraorbital facial cleft - Tessier cleft 5 Occurrence False Congenital Inferred relationship Some
Infraorbital facial cleft - Tessier cleft 6 Occurrence False Congenital Inferred relationship Some
Infraorbital facial cleft - Tessier cleft 7 Occurrence False Congenital Inferred relationship Some
Unicoronal craniosynostosis Occurrence False Congenital Inferred relationship Some
Bicoronal craniosynostosis Occurrence False Congenital Inferred relationship Some
Cloverleaf skull syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of skull shape Occurrence False Congenital Inferred relationship Some
Postural plagiocephaly Occurrence False Congenital Inferred relationship Some
Hemifacial microsomia Occurrence False Congenital Inferred relationship Some
Craniofacial microsomia Occurrence False Congenital Inferred relationship Some
Bilateral craniofacial microsomia Occurrence False Congenital Inferred relationship Some
incurvation posturale congénitale de la colonne vertébrale Occurrence False Congenital Inferred relationship Some
Congenital absence of spine Occurrence False Congenital Inferred relationship Some
Congenital lumbosacral fusion (disorder) Occurrence False Congenital Inferred relationship Some
Congenital sacrococcygeal anomaly Occurrence False Congenital Inferred relationship Some
Congenital malformation of sternum Occurrence False Congenital Inferred relationship Some
Defects of the tubular (and flat) bones and/or axial skeleton Occurrence False Congenital Inferred relationship Some
Spondylodysplasia, San Diego type Occurrence False Congenital Inferred relationship Some
Spondylodysplasia, Torrance type Occurrence False Congenital Inferred relationship Some
Spondylodysplasia, Luton type Occurrence False Congenital Inferred relationship Some
Schneckenbecken dysplasia Occurrence False Congenital Inferred relationship Some
Type III short rib polydactyly syndrome Occurrence False Congenital Inferred relationship Some
Type IV short rib polydactyly syndrome Occurrence False Congenital Inferred relationship Some
Boomerang dysplasia Occurrence False Congenital Inferred relationship Some
Atelosteogenesis type 2 Occurrence False Congenital Inferred relationship Some
Omodysplasia I Occurrence False Congenital Inferred relationship Some
Omodysplasia II Occurrence False Congenital Inferred relationship Some
Pseudodiastrophic dysplasia Occurrence False Congenital Inferred relationship Some
Otospondylomegaepiphyseal dysplasia Occurrence False Congenital Inferred relationship Some
Achondrogenesis, type II Occurrence False Congenital Inferred relationship Some
Spondyloepimetaphyseal disorder Occurrence False Congenital Inferred relationship Some
Autosomal recessive spondyloepimetaphyseal dysplasia Occurrence False Congenital Inferred relationship Some
Namaqualand hip dysplasia Occurrence False Congenital Inferred relationship Some
Progressive pseudorheumatoid dysplasia Occurrence False Congenital Inferred relationship Some
Wolcott-Rallison dysplasia Occurrence False Congenital Inferred relationship Some
Immuno-osseous dysplasia Occurrence False Congenital Inferred relationship Some
Opsismodysplasia Occurrence False Congenital Inferred relationship Some
Spondylometaphyseal dysplasia - Sutcliffe type Occurrence False Congenital Inferred relationship Some
Spondyloenchondrodysplasia Occurrence False Congenital Inferred relationship Some
Epiphyseal dysplasia Occurrence False Congenital Inferred relationship Some
Chondrodysplasia punctata, X-linked recessive type (disorder) Occurrence False Congenital Inferred relationship Some
Chondrodysplasia punctata, MT type Occurrence False Congenital Inferred relationship Some
Metaphyseal chondrodysplasia, Spahr type Occurrence False Congenital Inferred relationship Some
Metaphyseal anadysplasia Occurrence False Congenital Inferred relationship Some
Brachyrachia (short spine dysplasia) Occurrence False Congenital Inferred relationship Some
Brachyolmia Occurrence False Congenital Inferred relationship Some
Acromicric dysplasia Occurrence False Congenital Inferred relationship Some
Trichorhinophalangeal dysplasia type I Occurrence False Congenital Inferred relationship Some
Saldino-Mainzer dysplasia Occurrence False Congenital Inferred relationship Some
Cranioectodermal dysplasia Occurrence False Congenital Inferred relationship Some
Dysplasias with significant membranous bone involvement Occurrence False Congenital Inferred relationship Some
Kyphomelic dysplasia Occurrence False Congenital Inferred relationship Some
Stuve-Wiedemann dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Multiple dislocations with dysplasia Occurrence False Congenital Inferred relationship Some
Desbuquois syndrome Occurrence False Congenital Inferred relationship Some
dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire Occurrence False Congenital Inferred relationship Some
Osteodysplastic primordial dwarfism Occurrence False Congenital Inferred relationship Some
Osteodysplastic primordial dwarfism, type 1 Occurrence False Congenital Inferred relationship Some
Osteodysplastic primordial dwarfism, type 2 Occurrence False Congenital Inferred relationship Some
Dysplasia with decreased bone density Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur. Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modeling of the femur. The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. Occurrence False Congenital Inferred relationship Some
Osteoporosis with pseudoglioma Occurrence False Congenital Inferred relationship Some
Bruck syndrome Occurrence False Congenital Inferred relationship Some
Singleton-Merten syndrome Occurrence False Congenital Inferred relationship Some
Geroderma osteodysplastica Occurrence False Congenital Inferred relationship Some
Dysplasia with defective mineralization Occurrence False Congenital Inferred relationship Some
Dysplasia with increased bone density Occurrence False Congenital Inferred relationship Some
Osteopetrosis - intermediate type Occurrence False Congenital Inferred relationship Some
Osteopetrosis with renal tubular acidosis Occurrence False Congenital Inferred relationship Some
Dysosteosclerosis Occurrence False Congenital Inferred relationship Some
Osteosclerosis - Stanescu type Occurrence False Congenital Inferred relationship Some
Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. Occurrence False Congenital Inferred relationship Some
Osteomesopycnosis Occurrence False Congenital Inferred relationship Some
Osteopathia striata with cranial sclerosis Occurrence False Congenital Inferred relationship Some
Endosteal hyperostoses Occurrence False Congenital Inferred relationship Some
Worth disease Occurrence False Congenital Inferred relationship Some
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. Occurrence False Congenital Inferred relationship Some
Pachydermoperiostosis - familial Occurrence False Congenital Inferred relationship Some
Craniometaphyseal dysplasia - severe type Occurrence False Congenital Inferred relationship Some
Craniometaphyseal dysplasia - mild type Occurrence False Congenital Inferred relationship Some
Oculodento-osseous dysplasia Occurrence False Congenital Inferred relationship Some
Oculodento-osseous dysplasia - severe type Occurrence False Congenital Inferred relationship Some
Oculodento-osseous dysplasia - mild type (disorder) Occurrence False Congenital Inferred relationship Some
Disorganised development of cartilaginous and fibrous components of the skeleton Occurrence False Congenital Inferred relationship Some
Dyschondroplasia Occurrence False Congenital Inferred relationship Some
Osteoglophonic dysplasia Occurrence False Congenital Inferred relationship Some
Fibrous dysplasia Occurrence False Congenital Inferred relationship Some
Infantile myofibromatosis Occurrence False Congenital Inferred relationship Some
Idiopathic osteolyses Occurrence False Congenital Inferred relationship Some
Hereditary acroosteolysis (disorder) Occurrence False Congenital Inferred relationship Some
Carpal-tarsal osteolysis with nephropathy (disorder) Occurrence False Congenital Inferred relationship Some

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