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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
Amaurosis hypertrichosis syndrome Occurrence True Congenital Inferred relationship Some 2
Amaurosis hypertrichosis syndrome Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta type IIB Occurrence True Congenital Inferred relationship Some 1
Pontocerebellar hypoplasia type 7 Occurrence True Congenital Inferred relationship Some 1
Taurodontism Occurrence False Congenital Inferred relationship Some 1
Congenital retinal aneurysm Occurrence True Congenital Inferred relationship Some 1
Dyssegmental dysplasia with glaucoma syndrome Occurrence False Congenital Inferred relationship Some 2
Dyssegmental dysplasia with glaucoma syndrome Occurrence False Congenital Inferred relationship Some 1
Atrioventricular septal defect with common atrioventricular orifice Occurrence True Congenital Inferred relationship Some 1
RIN2 syndrome Occurrence True Congenital Inferred relationship Some 1
Craniofacial conodysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Craniofacial conodysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Cheirospondyloenchondromatosis Occurrence True Congenital Inferred relationship Some 1
Andersen Tawil syndrome Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Occurrence True Congenital Inferred relationship Some 4
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Occurrence True Congenital Inferred relationship Some 2
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Occurrence True Congenital Inferred relationship Some 3
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Occurrence True Congenital Inferred relationship Some 1
Double outlet right atrium Occurrence True Congenital Inferred relationship Some 1
Gomez Lopez Hernandez syndrome Occurrence True Congenital Inferred relationship Some 3
Gomez Lopez Hernandez syndrome Occurrence True Congenital Inferred relationship Some 2
Gomez Lopez Hernandez syndrome Occurrence True Congenital Inferred relationship Some 1
Osteoglophonic dysplasia Occurrence True Congenital Inferred relationship Some 1
Morse Rawnsley Sargent syndrome Occurrence True Congenital Inferred relationship Some 1
Morse Rawnsley Sargent syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital pulmonary lymphatic dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Achondrogenesis, type IB Occurrence True Congenital Inferred relationship Some 1
Hepatic vein to coronary sinus Occurrence True Congenital Inferred relationship Some 1
Microcephalic primordial dwarfism Toriello type Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of metacarpal bone Occurrence True Congenital Inferred relationship Some 1
Kousseff syndrome Occurrence True Congenital Inferred relationship Some 2
Kousseff syndrome Occurrence True Congenital Inferred relationship Some 3
Osteopenia, intellectual disability, sparse hair syndrome Occurrence True Congenital Inferred relationship Some 3
Osteopenia, intellectual disability, sparse hair syndrome Occurrence True Congenital Inferred relationship Some 1
Osteopenia, intellectual disability, sparse hair syndrome Occurrence True Congenital Inferred relationship Some 2
Spondylodysplasia, San Diego type Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome Occurrence True Congenital Inferred relationship Some 1
Dicephalus dipus tetrabrachius Occurrence True Congenital Inferred relationship Some 1
Odontotrichomelic syndrome Occurrence True Congenital Inferred relationship Some 2
Pfeiffer Palm Teller syndrome Occurrence True Congenital Inferred relationship Some 1
Penile hypospadias Occurrence True Congenital Inferred relationship Some 1
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome Occurrence True Congenital Inferred relationship Some 2
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome Occurrence True Congenital Inferred relationship Some 1
Riedel's lobe of liver Occurrence True Congenital Inferred relationship Some 1
Yunis-Varon dysplasia Occurrence True Congenital Inferred relationship Some 1
Anodontia Occurrence True Congenital Inferred relationship Some 1
Neuroectodermal endocrine syndrome Occurrence False Congenital Inferred relationship Some 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Partial anomalous pulmonary venous connection of entire left lung Occurrence True Congenital Inferred relationship Some 1
Congenital eventration of diaphragm Occurrence True Congenital Inferred relationship Some 1
Spondyloenchondrodysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital coronary artery fistula to right atrium Occurrence True Congenital Inferred relationship Some 1
Suprabasal epidermolysis bullosa simplex Occurrence True Congenital Inferred relationship Some 1
Wilson Turner syndrome Occurrence True Congenital Inferred relationship Some 1
Lumbar hemivertebra Occurrence True Congenital Inferred relationship Some 1
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence True Congenital Inferred relationship Some 3
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence True Congenital Inferred relationship Some 2
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence True Congenital Inferred relationship Some 1
Laryngeal cleft type IV Occurrence True Congenital Inferred relationship Some 1
Whyte Hemingway carpal tarsal phalangeal osteolyses Occurrence False Congenital Inferred relationship Some 1
Western type of congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital absence of auricle with atresia of auditory canal Occurrence True Congenital Inferred relationship Some 1
Gollop Wolfgang complex Occurrence True Congenital Inferred relationship Some 1
Osteosclerosis, developmental delay, craniosynostosis syndrome Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 1
Hypertelorism Teebi type Occurrence True Congenital Inferred relationship Some 1
Hypertelorism Teebi type Occurrence True Congenital Inferred relationship Some 2
Dentin dysplasia, type II Occurrence True Congenital Inferred relationship Some 1
Abnormal palmar creases Occurrence True Congenital Inferred relationship Some 1
Osteoporosis with pseudoglioma Occurrence True Congenital Inferred relationship Some 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital bronchiectasis Occurrence True Congenital Inferred relationship Some 1
Discontinuous rib Occurrence True Congenital Inferred relationship Some 1
Beta-D-mannosidosis Occurrence True Congenital Inferred relationship Some 1
Right ventricle inferior to left ventricle Occurrence True Congenital Inferred relationship Some 1
Congenital scar Occurrence True Congenital Inferred relationship Some 1
Omphalocele with gangrene Occurrence True Congenital Inferred relationship Some 1
Acromegaloid facial appearance syndrome Occurrence True Congenital Inferred relationship Some 1
Lethal Larsen-like syndrome Occurrence True Congenital Inferred relationship Some 1
Ash leaf spot, tuberous sclerosis Occurrence True Congenital Inferred relationship Some 1
Congenital absence of fourth and fifth toes Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis and intracranial calcification syndrome Occurrence True Congenital Inferred relationship Some 3
Craniosynostosis and intracranial calcification syndrome Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis and intracranial calcification syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital pectus carinatum Occurrence True Congenital Inferred relationship Some 1
Infantile cortical hyperostosis Occurrence True Congenital Inferred relationship Some 1
Infantile cortical hyperostosis Occurrence True Congenital Inferred relationship Some 2
Langer mesomelic dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Spina bifida with hydrocephalus of late onset Occurrence True Congenital Inferred relationship Some 3
Spina bifida with hydrocephalus of late onset Occurrence True Congenital Inferred relationship Some 1
Guttmacher syndrome Occurrence True Congenital Inferred relationship Some 2
Guttmacher syndrome Occurrence True Congenital Inferred relationship Some 1
Guttmacher syndrome Occurrence True Congenital Inferred relationship Some 3
Spina bifida without hydrocephalus Occurrence True Congenital Inferred relationship Some 2
Fibrous dysplasia Occurrence False Congenital Inferred relationship Some 1
Nathalie syndrome Occurrence True Congenital Inferred relationship Some 2
Nathalie syndrome Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to aneurysm of membranous septum Occurrence False Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum Occurrence True Congenital Inferred relationship Some 1
X-linked dominant chondrodysplasia Chassaing Lacombe type Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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