FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.9.0  |  FHIR Version n/a  User: [n/a]

255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Janiceps Occurrence True Congenital Inferred relationship Some 2
Janiceps Occurrence True Congenital Inferred relationship Some 3
Janiceps Occurrence False Congenital Inferred relationship Some 4
Diprosopus Occurrence False Congenital Inferred relationship Some 2
Anakatadidymus Occurrence True Congenital Inferred relationship Some 2
Anakatadidymus Occurrence False Congenital Inferred relationship Some 3
Dicheirus Occurrence False Congenital Inferred relationship Some 2
Dipygus Occurrence False Congenital Inferred relationship Some 3
Opodidymus Occurrence False Congenital Inferred relationship Some 2
Omphaloangiopagus Occurrence True Congenital Inferred relationship Some 2
Omphaloangiopagus Occurrence False Congenital Inferred relationship Some 3
Pygomelus Occurrence True Congenital Inferred relationship Some 2
Pygomelus Occurrence False Congenital Inferred relationship Some 3
Gastrothoracopagus Occurrence True Congenital Inferred relationship Some 2
Gastrothoracopagus Occurrence False Congenital Inferred relationship Some 3
Monocephalus tetrapus dibrachius Occurrence True Congenital Inferred relationship Some 2
Monocephalus tetrapus dibrachius Occurrence False Congenital Inferred relationship Some 3
Thoracoparacephalus Occurrence True Congenital Inferred relationship Some 2
Thoracoparacephalus Occurrence False Congenital Inferred relationship Some 3
Pygodidymus Occurrence True Congenital Inferred relationship Some 2
Pygodidymus Occurrence False Congenital Inferred relationship Some 3
Acardius Occurrence True Congenital Inferred relationship Some 1
Acardius Occurrence False Congenital Inferred relationship Some 4
Gastrothoracopagus dipygus Occurrence True Congenital Inferred relationship Some 3
Gastrothoracopagus dipygus Occurrence True Congenital Inferred relationship Some 4
Lysine intolerance Occurrence False Congenital Inferred relationship Some
Gastrothoracopagus dipygus Occurrence False Congenital Inferred relationship Some 5
Autositic twin of asymmetrical conjoined twins Occurrence True Congenital Inferred relationship Some 2
Autositic twin of asymmetrical conjoined twins Occurrence False Congenital Inferred relationship Some 3
Cephalodymus Occurrence False Congenital Inferred relationship Some 3
Acephaly Occurrence True Congenital Inferred relationship Some 1
Enamel spur Occurrence False Congenital Inferred relationship Some 2
Cephalodiprosopus Occurrence False Congenital Inferred relationship Some 2
Congenital complex varus foot deformity Occurrence True Congenital Inferred relationship Some 2
Acephalobrachius Occurrence True Congenital Inferred relationship Some 1
Congenital forefoot varus Occurrence True Congenital Inferred relationship Some 2
Congenital rearfoot varus Occurrence True Congenital Inferred relationship Some 2
Talipes equinovarus Occurrence False Congenital Inferred relationship Some 3
Fetal anencephaly Occurrence False Congenital Inferred relationship Some 2
Talipes equinocavovarus Occurrence False Congenital Inferred relationship Some 3
Microcephalic primordial dwarfism Toriello type Occurrence False Congenital Inferred relationship Some 2
Anencephaly without rachischisis Occurrence True Congenital Inferred relationship Some 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome Occurrence True Congenital Inferred relationship Some 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome Occurrence True Congenital Inferred relationship Some 2
Polysomia Occurrence True Congenital Inferred relationship Some 2
Polysomia Occurrence False Congenital Inferred relationship Some 3
Pericardial and diaphragmatic defect syndrome Occurrence False Congenital Inferred relationship Some 4
Pericardial and diaphragmatic defect syndrome Occurrence False Congenital Inferred relationship Some 5
Pericardial and diaphragmatic defect syndrome Occurrence False Congenital Inferred relationship Some 6
Pericardial and diaphragmatic defect syndrome Occurrence False Congenital Inferred relationship Some 7
Neuroectodermal endocrine syndrome Occurrence False Congenital Inferred relationship Some 2
Neuroectodermal endocrine syndrome Occurrence False Congenital Inferred relationship Some 3
Neuroectodermal melanolysosomal disease Occurrence True Congenital Inferred relationship Some 2
Neuroectodermal melanolysosomal disease Occurrence True Congenital Inferred relationship Some 3
Nephrosis, deafness, urinary tract, digital malformation syndrome Occurrence False Congenital Inferred relationship Some 2
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome Occurrence True Congenital Inferred relationship Some 1
MPDU1-CDG - mannose-P-dolichol utilisation defect 1 - congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Occurrence False Congenital Inferred relationship Some 5
Monosomy 9q22.3 syndrome Occurrence True Congenital Inferred relationship Some 2
Monosomy 9q22.3 syndrome Occurrence True Congenital Inferred relationship Some 3
MOMO syndrome Occurrence False Congenital Inferred relationship Some 3
MOMO syndrome Occurrence False Congenital Inferred relationship Some 4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Occurrence True Congenital Inferred relationship Some 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Occurrence False Congenital Inferred relationship Some 4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Occurrence False Congenital Inferred relationship Some 5
Microspherophakia with metaphyseal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome Occurrence False Congenital Inferred relationship Some 4
Microspherophakia with metaphyseal dysplasia syndrome Occurrence False Congenital Inferred relationship Some 5
Microcephalic primordial dwarfism due to ZNF335 deficiency Occurrence True Congenital Inferred relationship Some 1
MGAT2-CDG - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Methimazole embryofetopathy Occurrence True Congenital Inferred relationship Some 1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Occurrence False Congenital Inferred relationship Some 3
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Occurrence True Congenital Inferred relationship Some 4
8q13 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
8q13 microdeletion syndrome Occurrence False Congenital Inferred relationship Some 4
8q13 microdeletion syndrome Occurrence False Congenital Inferred relationship Some 5
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome Occurrence True Congenital Inferred relationship Some 1
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 4
LIG4 syndrome Occurrence False Congenital Inferred relationship Some 3
Laryngeal abductor paralysis with intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
KRT14 related epidermolysis bullosa simplex Occurrence False Congenital Inferred relationship Some 4
KRT14 related epidermolysis bullosa simplex Occurrence False Congenital Inferred relationship Some 5
Kleefstra syndrome Occurrence True Congenital Inferred relationship Some 1
Keutel syndrome Occurrence False Congenital Inferred relationship Some 5
Keutel syndrome Occurrence False Congenital Inferred relationship Some 6
Keutel syndrome Occurrence False Congenital Inferred relationship Some 7
Keutel syndrome Occurrence False Congenital Inferred relationship Some 8
Keratosis palmaris et plantaris with clinodactyly syndrome Occurrence False Congenital Inferred relationship Some 4
Keratosis palmaris et plantaris with clinodactyly syndrome Occurrence False Congenital Inferred relationship Some 5
Keratosis palmaris et plantaris with clinodactyly syndrome Occurrence False Congenital Inferred relationship Some 6
Infantile osteopetrosis with neuroaxonal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome Occurrence False Congenital Inferred relationship Some 3
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Occurrence True Congenital Inferred relationship Some 4
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Occurrence True Congenital Inferred relationship Some 5
Congenital ichthyosis with hypotrichosis syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome Occurrence False Congenital Inferred relationship Some 3
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome Occurrence True Congenital Inferred relationship Some 3
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome Occurrence False Congenital Inferred relationship Some 4
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome Occurrence False Congenital Inferred relationship Some 5
Hypospadias, hypertelorism, coloboma, deafness syndrome Occurrence False Congenital Inferred relationship Some 6

Start Previous Page 261 of 329 Next End

Reference Sets

Qualifier value foundation reference set

Back to Start