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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

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
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha Occurrence True Congenital Inferred relationship Some 1
Large congenital pigmented melanocytic nevus of skin (disorder) Occurrence True Congenital Inferred relationship Some 1
Isolated encephalocele Occurrence True Congenital Inferred relationship Some 1
Isolated encephalocele Occurrence True Congenital Inferred relationship Some 2
Isolated congenital distichiasis (disorder) Occurrence True Congenital Inferred relationship Some 1
Isolated congenital distichiasis (disorder) Occurrence True Congenital Inferred relationship Some 2
Rhizomelic dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Thoracic dysplasia and hydrocephalus syndrome Occurrence True Congenital Inferred relationship Some 3
Leri-Weill dyschondrosteosis Occurrence True Congenital Inferred relationship Some 4
Leri-Weill dyschondrosteosis Occurrence True Congenital Inferred relationship Some 5
Leri-Weill dyschondrosteosis Occurrence True Congenital Inferred relationship Some 6
Leri-Weill dyschondrosteosis Occurrence True Congenital Inferred relationship Some 7
Mesomelic dysplasia of lower limb Occurrence True Congenital Inferred relationship Some 1
Mesomelic dysplasia of upper limb (disorder) Occurrence True Congenital Inferred relationship Some 2
Mesomelic dysplasia of lower limb Occurrence True Congenital Inferred relationship Some 2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Dyschondrosteosis and nephritis syndrome Occurrence False Congenital Inferred relationship Some 5
Mesomelic dysplasia Kantaputra type (disorder) Occurrence True Congenital Inferred relationship Some 3
Mesomelic dysplasia Kantaputra type (disorder) Occurrence True Congenital Inferred relationship Some 4
Mesomelic dysplasia Savarirayan type (disorder) Occurrence True Congenital Inferred relationship Some 3
Mesomelic dysplasia Savarirayan type (disorder) Occurrence True Congenital Inferred relationship Some 4
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Occurrence True Congenital Inferred relationship Some 3
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Occurrence True Congenital Inferred relationship Some 5
Nievergelt's syndrome Occurrence True Congenital Inferred relationship Some 4
Autosomal recessive Robinow syndrome Occurrence True Congenital Inferred relationship Some 7
Autosomal dominant Robinow syndrome (disorder) Occurrence True Congenital Inferred relationship Some 7
Autosomal recessive Robinow syndrome Occurrence True Congenital Inferred relationship Some 1
Brachydactyly type A6 (disorder) Occurrence True Congenital Inferred relationship Some 2
Perimembranous ventricular septal defect with extension to right ventricular inlet Occurrence True Congenital Inferred relationship Some 1
Perimembranous ventricular septal defect with extension to right ventricular trabecular component Occurrence True Congenital Inferred relationship Some 1
Perimembranous ventricular septal defect with extension to right ventricular outlet Occurrence True Congenital Inferred relationship Some 1
Perimembranous ventricular septal defect with extension to all right ventricular components Occurrence True Congenital Inferred relationship Some 1
Congenital trigger finger Occurrence True Congenital Inferred relationship Some 1
Multiple epiphyseal dysplasia Lowry type (disorder) Occurrence True Congenital Inferred relationship Some 4
Cleidorhizomelic syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Multiple epiphyseal dysplasia Lowry type (disorder) Occurrence True Congenital Inferred relationship Some 6
Perimembranous outlet ventricular septal defect with posteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 2
Perimembranous inlet ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Perimembranous inlet ventricular septal defect with atrioventricular septal malalignment (disorder) Occurrence True Congenital Inferred relationship Some 3
Central basal perimembranous ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Perimembranous outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 3
True cleft of left atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Some 2
Zechi Ceide syndrome Occurrence True Congenital Inferred relationship Some 8
Retinal detachment and occipital encephalocele Occurrence True Congenital Inferred relationship Some 6
Perimembranous outlet ventricular septal defect with posteriorly malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 3
Isolated cytochrome C oxidase deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant osteopetrosis type 1 Occurrence True Congenital Inferred relationship Some 1
Aplasia of external auditory canal (disorder) Occurrence True Congenital Inferred relationship Some 1
Persistent left superior vena cava connecting through coronary sinus to left sided atrium Occurrence True Congenital Inferred relationship Some 1
Congenital non-syndromic anorectal malformation (disorder) Occurrence True Congenital Inferred relationship Some 1
Arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Some 1
Marden Walker syndrome Occurrence True Congenital Inferred relationship Some 1
Marden Walker syndrome Occurrence True Congenital Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome Occurrence True Congenital Inferred relationship Some 6
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Occurrence True Congenital Inferred relationship Some 6
Congenital amyoplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital radioulnar synostosis Occurrence True Congenital Inferred relationship Some 1
Congenital radioulnar synostosis Occurrence True Congenital Inferred relationship Some 2
Congenital malposition of left external ear (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital malposition of right external ear (disorder) Occurrence True Congenital Inferred relationship Some 1
Usher syndrome type 1F (disorder) Occurrence True Congenital Inferred relationship Some 2
Usher syndrome type 1F (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital split of bilateral ear lobes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital split of bilateral ear lobes (disorder) Occurrence True Congenital Inferred relationship Some 2
Craniosynostosis, microretrognathia, severe intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis, microretrognathia, severe intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Occurrence True Congenital Inferred relationship Some 1
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Occurrence True Congenital Inferred relationship Some 3
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Occurrence True Congenital Inferred relationship Some 4
Lipoyl transferase 2 deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Occurrence True Congenital Inferred relationship Some 1
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive extra-oral halitosis Occurrence True Congenital Inferred relationship Some 1
Adrenoleukodystrophy Occurrence True Congenital Inferred relationship Some 4
Adrenomyeloneuropathy (disorder) Occurrence True Congenital Inferred relationship Some 4
Congenital incomplete closure of velopharyngeal apparatus due to anatomical abnormality (disorder) Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of right ovary (disorder) Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of left ovary Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of left fallopian tube Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of right fallopian tube (disorder) Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of left fallopian tube Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of right fallopian tube (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital insensitivity to pain, anosmia, neuropathic arthropathy Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 6
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 7
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 8
Congenital cataract microcornea with corneal opacity Occurrence True Congenital Inferred relationship Some 1
Congenital cataract microcornea with corneal opacity Occurrence True Congenital Inferred relationship Some 2
Congenital cataract microcornea with corneal opacity Occurrence True Congenital Inferred relationship Some 3
Short rib polydactyly syndrome type 5 Occurrence True Congenital Inferred relationship Some 1
Short rib polydactyly syndrome type 5 Occurrence True Congenital Inferred relationship Some 2
Short rib polydactyly syndrome type 5 Occurrence True Congenital Inferred relationship Some 3
Short rib polydactyly syndrome type 5 Occurrence True Congenital Inferred relationship Some 4
Primary triglyceride deposit cardiomyovasculopathy (disorder) Occurrence True Congenital Inferred relationship Some 3
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Multiple mitochondrial dysfunctions syndrome type 5 (disorder) Occurrence True Congenital Inferred relationship Some 3

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