FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  FHIR Version n/a  User: [n/a]

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

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
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Occurrence True Congenital Inferred relationship Some 6
Coenzyme Q10 deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) Occurrence True Congenital Inferred relationship Some 6
Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder (disorder) Occurrence True Congenital Inferred relationship Some 1
Omenn syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital deformity of left sternocleidomastoid muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of right sternocleidomastoid muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of sternocleidomastoid muscle Occurrence True Congenital Inferred relationship Some 1
Agenesis of external ear Occurrence True Congenital Inferred relationship Some 1
Primary congenital aneurysm of superior vena cava (disorder) Occurrence True Congenital Inferred relationship Some 1
Primary congenital aneurysm of inferior vena cava Occurrence True Congenital Inferred relationship Some 1
Congenital vaginal enterocele Occurrence True Congenital Inferred relationship Some 3
Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta Occurrence True Congenital Inferred relationship Some 1
Congenital hallux valgus due to metatarsus primus varus Occurrence True Congenital Inferred relationship Some 1
Left congenital hallux valgus due to metatarsus primus varus Occurrence True Congenital Inferred relationship Some 1
Right congenital hallux valgus due to metatarsus primus varus Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital hallux valgus due to metatarsus primus varus Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital hallux valgus due to metatarsus primus varus Occurrence True Congenital Inferred relationship Some 2
Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of sternum Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of sternum Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of left ankle region (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of left ankle region (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of right ankle region (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of right ankle region (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of ankle region (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of ankle region (disorder) Occurrence True Congenital Inferred relationship Some 2
Aplastic uterus with rudimentary cavity Occurrence True Congenital Inferred relationship Some 1
Aplastic uterus without rudimentary cavity (disorder) Occurrence True Congenital Inferred relationship Some 1
Hereditary pyropoikilocytosis Occurrence True Congenital Inferred relationship Some 4
T-shaped uterus Occurrence True Congenital Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Occurrence True Congenital Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Occurrence True Congenital Inferred relationship Some 3
Hemi-uterus with rudimentary cavity (disorder) Occurrence True Congenital Inferred relationship Some 1
Hemi-uterus without rudimentary cavity (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of pulmonary trunk (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of pulmonary trunk (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of pulmonary artery Occurrence True Congenital Inferred relationship Some 1
Andermann syndrome Occurrence True Congenital Inferred relationship Some 2
Residual coarctation of aorta (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital segmental spinal dysgenesis (disorder) Occurrence True Congenital Inferred relationship Some 1
Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of bone of head Occurrence True Congenital Inferred relationship Some 1
3q26q28 deletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
3q26q28 deletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
3q26q28 deletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Cephalothoracopagus (disorder) Occurrence True Congenital Inferred relationship Some 4
Thoracodelphus Occurrence True Congenital Inferred relationship Some 3
Deradelphus Occurrence True Congenital Inferred relationship Some 4
Congenital scoliosis deformity of spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Acromelia of upper limb Occurrence True Congenital Inferred relationship Some 1
Acromelia of upper limb Occurrence True Congenital Inferred relationship Some 2
Acromelia of lower limb Occurrence True Congenital Inferred relationship Some 1
Acromelia of lower limb Occurrence True Congenital Inferred relationship Some 2
Acromelia Occurrence True Congenital Inferred relationship Some 1
Acromelia Occurrence True Congenital Inferred relationship Some 2
Brachyturricephaly Occurrence True Congenital Inferred relationship Some 1
Brachyturricephaly Occurrence True Congenital Inferred relationship Some 2
Cutaneous syndactyly of second and third toe Occurrence True Congenital Inferred relationship Some 1
Cutaneous syndactyly of middle finger and ring finger Occurrence True Congenital Inferred relationship Some 1
Cutaneous syndactyly of middle finger and ring finger Occurrence True Congenital Inferred relationship Some 3
Complete cutaneous syndactyly of all digits of hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Complete cutaneous syndactyly of all digits of hand (disorder) Occurrence True Congenital Inferred relationship Some 2
Complete cutaneous syndactyly of all digits of hand (disorder) Occurrence True Congenital Inferred relationship Some 3
Complete cutaneous syndactyly of all digits of hand (disorder) Occurrence True Congenital Inferred relationship Some 4
Complete cutaneous syndactyly of all digits of hand (disorder) Occurrence True Congenital Inferred relationship Some 6
Cutaneous syndactyly of second and third toe Occurrence True Congenital Inferred relationship Some 2
Congenital atresia of external ear Occurrence True Congenital Inferred relationship Some 1
Median cleft of lip and palate (disorder) Occurrence True Congenital Inferred relationship Some 1
Median cleft of lip and palate (disorder) Occurrence True Congenital Inferred relationship Some 2
Median cleft of lip and palate (disorder) Occurrence True Congenital Inferred relationship Some 3
Nevus flammeus of skin of forehead Occurrence True Congenital Inferred relationship Some 1
Partial duplication of eyebrow (disorder) Occurrence True Congenital Inferred relationship Some 1
Polysyndactyly of great toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Polysyndactyly of great toe (disorder) Occurrence True Congenital Inferred relationship Some 2
Polysyndactyly of little toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Polysyndactyly of little toe (disorder) Occurrence True Congenital Inferred relationship Some 2
Oligodontia of deciduous tooth (disorder) Occurrence True Congenital Inferred relationship Some 1
Oligodontia of deciduous tooth (disorder) Occurrence True Congenital Inferred relationship Some 5
Rhizomelic shortening of upper limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Rhizomelic shortening of upper limb (disorder) Occurrence True Congenital Inferred relationship Some 2
Rhizomelic shortening of lower limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Rhizomelic shortening of lower limb (disorder) Occurrence True Congenital Inferred relationship Some 2
Rhizomelic shortening of limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Rhizomelic shortening of limb (disorder) Occurrence True Congenital Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Deafness and oligodontia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Submucous cleft of hard and soft palate (disorder) Occurrence True Congenital Inferred relationship Some 1
Submucous cleft of hard and soft palate (disorder) Occurrence True Congenital Inferred relationship Some 3
Submucous cleft of soft palate (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of neurocranium (disorder) Occurrence True Congenital Inferred relationship Some 1
Syndactyly with fusion of bone of index finger and middle finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Syndactyly with fusion of bone of index finger and middle finger (disorder) Occurrence True Congenital Inferred relationship Some 2
Syndactyly with fusion of bone of index finger and middle finger (disorder) Occurrence True Congenital Inferred relationship Some 3
Syndactyly with fusion of bone of middle finger and ring finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Syndactyly with fusion of bone of middle finger and ring finger (disorder) Occurrence True Congenital Inferred relationship Some 2
Syndactyly with fusion of bone of middle finger and ring finger (disorder) Occurrence True Congenital Inferred relationship Some 3
Syndactyly with fusion of bone of middle finger and ring finger and little finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Syndactyly with fusion of bone of middle finger and ring finger and little finger (disorder) Occurrence True Congenital Inferred relationship Some 2
Syndactyly with fusion of bone of middle finger and ring finger and little finger (disorder) Occurrence True Congenital Inferred relationship Some 3

Start Previous Page 344 of 346 Next End

This concept is not in any reference sets

Back to Start