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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
380598010 Congenital en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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 Existential restriction modifier (core metadata concept)
Congenital Is a Fetal and/or neonatal period true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Large congenital pigmented melanocytic nevus of skin (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated encephalocele Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated encephalocele Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Isolated distichiasis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated distichiasis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Rhizomelic dysplasia (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracic dysplasia and hydrocephalus syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Leri-Weill dyschondrosteosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Leri-Weill dyschondrosteosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 5
Leri-Weill dyschondrosteosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 6
Leri-Weill dyschondrosteosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 7
Mesomelic dysplasia of lower limb Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Mesomelic dysplasia of upper limb (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia of lower limb Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 5
Dyschondrosteose - Nephritis Occurrence False Congenital Inferred relationship Existential restriction modifier (core metadata concept) 5
Mesomelic dysplasia Kantaputra type (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Mesomelic dysplasia Kantaputra type (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Mesomelic dysplasia Savarirayan type (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Mesomelic dysplasia Savarirayan type (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Reinhardt Pfeiffer mesomelic dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Reinhardt Pfeiffer mesomelic dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 5
Nievergelt's syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive Robinow syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal dominant Robinow syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal recessive Robinow syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly type A6 (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Perimembranous ventricular septal defect with extension to right ventricular inlet (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Perimembranous ventricular septal defect with extension to right ventricular trabecular component Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Perimembranous ventricular septal defect with extension to right ventricular outlet (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Perimembranous ventricular septal defect with extension to all right ventricular components (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital trigger finger Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple epiphyseal dysplasia Lowry type Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleidorhizomelic syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple epiphyseal dysplasia Lowry type Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 6
Perimembranous outlet ventricular septal defect with posteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Perimembranous inlet ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Perimembranous inlet ventricular septal defect with atrioventricular septal malalignment (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Central basal perimembranous ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Perimembranous outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
True cleft of left atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Zechi Ceide syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 8
Retinal detachment and occipital encephalocele Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 6
Perimembranous outlet ventricular septal defect with posteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Isolated cytochrome C oxidase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant osteopetrosis type 1 (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia of external auditory canal (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Persistent left superior vena cava connecting through coronary sinus to left sided atrium (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital non-syndromic anorectal malformation (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Marden Walker syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Marden Walker syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Microphthalmia, microtia, fetal akinesia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 6
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital amyoplasia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital radioulnar synostosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital radioulnar synostosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital malposition of left external ear (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malposition of right external ear Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Usher syndrome type 1F (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Usher syndrome type 1F (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital split of bilateral ear lobes (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital split of bilateral ear lobes (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Lipoyl transferase 2 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive extra-oral halitosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Adrenoleukodystrophy Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Adrenomyeloneuropathy (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital incomplete closure of velopharyngeal apparatus due to anatomical abnormality (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Embryonic cyst of right ovary (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Embryonic cyst of left ovary Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of left fallopian tube (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of right fallopian tube (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Embryonic cyst of left fallopian tube Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Embryonic cyst of right fallopian tube Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital insensitivity to pain, anosmia, neuropathic arthropathy Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 5
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 6
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 7
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 8
A rare genetic eye disease characterised by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic eye disease characterised by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic eye disease characterised by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib polydactyly syndrome type 5 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib polydactyly syndrome type 5 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib polydactyly syndrome type 5 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib polydactyly syndrome type 5 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Primary triglyceride deposit cardiomyovasculopathy (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3

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