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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
Sacralization of lumbar vertebra Occurrence False Congenital Inferred relationship Some
Congenital deformity of sacroiliac joint (disorder) Occurrence False Congenital Inferred relationship Some
Leber's amaurosis Occurrence False Congenital Inferred relationship Some
Neuromuscular scoliosis Occurrence False Congenital Inferred relationship Some
Fallopian tube and broad ligament anomalies Occurrence False Congenital Inferred relationship Some
Fallopian tube and broad ligament anomalies, unspecified Occurrence False Congenital Inferred relationship Some
Embryonic cyst of fallopian tube or broad ligament NOS Occurrence False Congenital Inferred relationship Some
Other fallopian tube and broad ligament anomalies Occurrence False Congenital Inferred relationship Some
Other fallopian tube or broad ligament anomalies NOS Occurrence False Congenital Inferred relationship Some
Fallopian tube or broad ligament anomalies NOS Occurrence False Congenital Inferred relationship Some
Congenital deformity of spine Occurrence False Congenital Inferred relationship Some
Congenital spine deformity, unspecified Occurrence False Congenital Inferred relationship Some
Congenital scoliosis due to bony malformation Occurrence False Congenital Inferred relationship Some
Anomaly of spine, unspecified Occurrence False Congenital Inferred relationship Some
Congenital absence of vertebra NOS Occurrence False Congenital Inferred relationship Some
Cervical hemivertebra- balanced Occurrence False Congenital Inferred relationship Some
Cervical hemivertebra - unbalanced Occurrence False Congenital Inferred relationship Some
Lumbar hemivertebra - balanced Occurrence False Congenital Inferred relationship Some
Lumbar hemivertebra - unbalanced Occurrence False Congenital Inferred relationship Some
Hemivertebra NOS Occurrence False Congenital Inferred relationship Some
Congenital complete fusion of spine Occurrence False Congenital Inferred relationship Some
Congenital partial fusion of spine - balanced Occurrence False Congenital Inferred relationship Some
Congenital partial fusion of spine - unbalanced Occurrence False Congenital Inferred relationship Some
Congenital partial fusion of spine with hemivertebra - balanced Occurrence False Congenital Inferred relationship Some
Congenital partial fusion of spine with hemivertebra - unbalanced Occurrence False Congenital Inferred relationship Some
Congenital anomalies of cervical vertebrae NEC Occurrence False Congenital Inferred relationship Some
Congenital anomaly of cervical vertebrae NEC NOS Occurrence False Congenital Inferred relationship Some
Congenital anomalies of thoracic vertebrae NEC Occurrence False Congenital Inferred relationship Some
Congenital anomaly of thoracic vertebrae NEC NOS Occurrence False Congenital Inferred relationship Some
Congenital anomalies of lumbar vertebrae NEC Occurrence False Congenital Inferred relationship Some
Congenital anomaly of lumbar vertebra NEC NOS Occurrence False Congenital Inferred relationship Some
Congenital sacrococcygeal anomalies NEC Occurrence False Congenital Inferred relationship Some
Congenital sacrococcygeal anomaly NOS Occurrence False Congenital Inferred relationship Some
Congenital absence of spine NEC Occurrence False Congenital Inferred relationship Some
Defect of vertebral segmentation Occurrence False Congenital Inferred relationship Some
Hypoplasia of spine Occurrence False Congenital Inferred relationship Some
Other anomaly of spine NOS Occurrence False Congenital Inferred relationship Some
Anomalies of spine NOS Occurrence False Congenital Inferred relationship Some
[X]Other congenital malformations of fallopian tube and broad ligament Occurrence False Congenital Inferred relationship Some
[X]Other congenital malformations of spine, not associated with scoliosis Occurrence False Congenital Inferred relationship Some
Congenital postural scoliosis Occurrence False Congenital Inferred relationship Some
Congenital heart disease in pregnancy 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 spine deformity NOS Occurrence False Congenital Inferred relationship Some
Other anomaly of spine Occurrence False Congenital Inferred relationship Some
Congenital partial fusion of spine Occurrence False Congenital Inferred relationship Some
Congenital malformation of ovaries and fallopian tubes Occurrence False Congenital Inferred relationship Some
Lumbarized first sacral vertebra Occurrence False Congenital Inferred relationship Some
A congenital differentiation of the fifth lumbar vertebra (L5) such that it takes on characteristics of a sacral vertebra. Though the sacralization is usually incomplete and limited to one side, it can be partial or complete on one or both sides of the sacrum Occurrence False Congenital Inferred relationship Some
Congenital lordosis/scoliosis Occurrence False Congenital Inferred relationship Some
Acquired absence of ovary (disorder) Occurrence False Congenital Inferred relationship Some
Spondyloschisis Occurrence False Congenital Inferred relationship Some
A congenital anomaly of a vertebra in which it develops characteristic(s) of the adjoining structure or region. Occurrence False Congenital Inferred relationship Some
Cervical malformation - malarticulation Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta type I (disorder) Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta type III (disorder) Occurrence False Congenital Inferred relationship Some
Agenesis of vagina Occurrence False Congenital Inferred relationship Some
Imperforate vagina Occurrence False Congenital Inferred relationship Some
Becker muscular dystrophy (disorder) Occurrence False Congenital Inferred relationship Some
Chronic granulomatous disease (disorder) Occurrence False Congenital Inferred relationship Some
Congenital fusion of spine Occurrence False Congenital Inferred relationship Some
Thanatophoric dysplasia, type 1 (disorder) Occurrence False Congenital Inferred relationship Some
Thanatophoric dysplasia, type 2 (disorder) Occurrence False Congenital Inferred relationship Some
Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder) Occurrence False Congenital Inferred relationship Some
Spondyloepiphyseal dysplasia with joint laxity (disorder) Occurrence False Congenital Inferred relationship Some
Sponastrime dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Acroscyphodysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Metaphyseal chondrodysplasia, Sedaghatian type (disorder) Occurrence False Congenital Inferred relationship Some
Brachyolmia - Hobaek type Occurrence False Congenital Inferred relationship Some
Brachyolmia - Maroteaux type (disorder) Occurrence False Congenital Inferred relationship Some
Trichorhinophalangeal dysplasia type III (disorder) Occurrence False Congenital Inferred relationship Some
Acromesomelic dysplasia Hunter-Thompson type (disorder) Occurrence False Congenital Inferred relationship Some
Brachydactyly syndrome type B (disorder) Occurrence False Congenital Inferred relationship Some
Brachydactyly syndrome type C (disorder) Occurrence False Congenital Inferred relationship Some
Precocious osteodysplasty (disorder) Occurrence False Congenital Inferred relationship Some
Yunis-Varon dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Osteoplastic dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Osteodysplastic dysplasia, type I (disorder) Occurrence False Congenital Inferred relationship Some
Osteodysplastic dysplasia, type II (disorder) Occurrence False Congenital Inferred relationship Some
dysplasie ostéodysplasique microcéphalique type Saul-Wilson Occurrence False Congenital Inferred relationship Some
Cole-Carpenter dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Mixed sclerosing bone dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
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. Occurrence False Congenital Inferred relationship Some
Diaphyseal medullary stenosis with bone malignancy (disorder) Occurrence False Congenital Inferred relationship Some
Neonatal osteosclerotic dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Blomstrand dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner. Occurrence False Congenital Inferred relationship Some
Lethal chondrodysplasia with fragmented bone (disorder) Occurrence False Congenital Inferred relationship Some
Greenberg dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Dappled diaphyseal dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Astley-Kendall dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Genochondromatosis (disorder) Occurrence False Congenital Inferred relationship Some
Spondyloenchondromatosis (disorder) Occurrence False Congenital Inferred relationship Some
Spondyloenchondromatosis with basal ganglia calcification (disorder) Occurrence False Congenital Inferred relationship Some
Cherubism with gingival fibromatosis (disorder) Occurrence False Congenital Inferred relationship Some
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Occurrence False Congenital Inferred relationship Some
Patella dysplasia Occurrence False Congenital Inferred relationship Some
Scypho-patellar dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Congenital pectus excavatum (disorder) Occurrence False Congenital Inferred relationship Some

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